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Adenocarcinoma
Biochemical basis of 5-aminolaevulinic acid-induced protoporphyrin IX accumulation: a study in patients with (pre)malignant lesions of the oesophagus.
Adenocarcinoma
Delta-aminolaevulinic acid-induced photodynamic therapy inhibits protoporphyrin IX biosynthesis and reduces subsequent treatment efficacy in vitro.
Adenocarcinoma
Effect of estrogenic perturbations on delta-aminolevulinic acid-induced porphobilinogen deaminase and protoporphyrin IX levels in rat Harderian glands, liver, and R3230AC tumors.
Anemia
Effects of recombinant human erythropoietin on porphyrin metabolism in uremic patients on hemodialysis.
Anemia
Erythrocyte uroporphyrinogen synthase activity as a possible diagnostic aid in the diagnosis of lymphoproliferative diseases.
Anemia
Heme biosynthesis in uremic patients on CAPD or hemodialysis.
Anemia
Heme synthesis in anemia of the uremic state.
Anemia
Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.
Anemia
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
Arthritis, Rheumatoid
[New aspects in the pathogenesis of anemia in chronic polyarthritis]
Astrocytoma
Sodium butyrate increases the effect of the photodynamic therapy: a mechanism that involves modulation of gene expression and differentiation in astrocytoma cells.
Ataxia
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Atrial Fibrillation
Identification of optimal reference genes for transcriptomic analyses in normal and diseased human heart.
Autoimmune Diseases
Quantitative real-time RT-PCR using hybridization probes and imported standard curves for cytokine gene expression analysis.
Brain Diseases
A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
Brain Diseases
Acute intermittent porphyria-related leukoencephalopathy.
Brain Ischemia
Decreased beta-actin mRNA expression in hyperglycemic focal cerebral ischemia in the rat.
Breast Neoplasms
DC-SCRIPT: nuclear receptor modulation and prognostic significance in primary breast cancer.
Breast Neoplasms
Effects of Silencing Heme Biosynthesis Enzymes on 5-Aminolevulinic Acid-mediated Protoporphyrin IX Fluorescence and Photodynamic Therapy.
Breast Neoplasms
Identification of endogenous reference genes for qRT-PCR analysis in normal matched breast tumor tissues.
Breast Neoplasms
Relative levels of let-7a, miR-17, miR-27b, miR-125a, miR-125b and miR-206 as potential molecular markers to evaluate grade, receptor status and molecular type in breast cancer.
Carcinogenesis
Nuclear distribution of porphobilinogen deaminase (PBGD) in glioma cells: a regulatory role in cancer transformation?
Carcinoma
Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization?
Carcinoma
Identification and Validation of Housekeeping Genes for Gene Expression Analysis of Cancer Stem Cells.
Carcinoma
Identification of reference genes for qRT-PCR in human lung squamous-cell carcinoma by RNA-Seq.
Carcinoma
Phenotypic mismatch repair hMSH2 and hMLH1 gene expression profiles in primary non-small cell lung carcinomas.
Carcinoma
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Carcinoma, Hepatocellular
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Carcinoma, Hepatocellular
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Carcinoma, Squamous Cell
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Cholecystitis
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.
Colonic Neoplasms
Distinct genomic and epigenomic features demarcate hypomethylated blocks in colon cancer.
Communicable Diseases
Increased porphobilinogen deaminase activity in patients with malignant lymphoproliferative diseases. A helpful diagnostic test.
Coproporphyria, Hereditary
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Coproporphyria, Hereditary
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Coproporphyria, Hereditary
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
COVID-19
Maintaining human milk bank services throughout the COVID-19 pandemic: A global response.
Dengue
Endogenous gene selection for relative quantification PCR and IL6 transcript levels in the PBMC's of severe and non-severe dengue cases.
Dermatitis, Phototoxic
Effect of delta-aminolevulinic acid on protoporphyrin IX accumulation in tumor cells transfected with plasmids containing porphobilinogen deaminase DNA.
Epilepsy
The challenge of managing comorbidities: a case report of primary Sjogren's syndrome in a patient with acute intermittent porphyria.
Fanconi Anemia
In vitro CFU-E and BFU-E responses to androgen in bone marrow from children with primary hypoproliferative anaemia: a possible therapeutic assay.
Genetic Diseases, Inborn
Acute intermittent porphyria: diagnostic conundrums.
Genetic Diseases, Inborn
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.
Genetic Diseases, Inborn
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.
Genetic Diseases, Inborn
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
Genetic Diseases, Inborn
Kidney damage in acute intermittent porphyria.
Genetic Diseases, Inborn
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene]
Glioma
A porphobilinogen deaminase (PBGD) Ran-binding protein interaction is implicated in nuclear trafficking of PBGD in differentiating glioma cells.
Glioma
Nuclear distribution of porphobilinogen deaminase (PBGD) in glioma cells: a regulatory role in cancer transformation?
Glioma
Selection of suitable reference genes for expression analysis in human glioma using RT-qPCR.
Glioma
TCGA mRNA Expression Analysis of the Heme Biosynthesis Pathway in Diffusely Infiltrating Gliomas: A Comparison of Typically 5-ALA Fluorescent and Non-Fluorescent Gliomas.
Heart Failure
Identification of optimal reference genes for transcriptomic analyses in normal and diseased human heart.
Hemochromatosis
Alginate microencapsulated human hepatocytes for the treatment of acute liver failure in children.
Hepatitis
Erythrocyte porphobilinogen deaminase activity in liver disease.
Hepatitis, Chronic
Erythrocyte porphobilinogen deaminase activity in liver disease.
Hodgkin Disease
Porphobilinogen deaminase activity in malignant proliferative disorders of the lymphatic system and bone marrow.
hydroxymethylbilane synthase deficiency
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
hydroxymethylbilane synthase deficiency
Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria.
hydroxymethylbilane synthase deficiency
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
hydroxymethylbilane synthase deficiency
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
hydroxymethylbilane synthase deficiency
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
hydroxymethylbilane synthase deficiency
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
hydroxymethylbilane synthase deficiency
Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance in Plasmodium chabaudi but Not in Plasmodium berghei or Plasmodium falciparum During Intraerythrocytic Growth.
hydroxymethylbilane synthase deficiency
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
hydroxymethylbilane synthase deficiency
Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting.
hydroxymethylbilane synthase deficiency
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
hydroxymethylbilane synthase deficiency
PORPHOBILINOGEN DEAMINASE deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis.
hydroxymethylbilane synthase deficiency
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.
hydroxymethylbilane synthase deficiency
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
hydroxymethylbilane synthase deficiency
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
hydroxymethylbilane synthase deficiency
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.
hydroxymethylbilane synthase deficiency
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Hypertension
Acute intermittent porphyria: A case report
Hypertension, Pulmonary
Identification of reliable reference genes for quantitative real-time PCR in lung and heart of pulmonary hypertensive chickens.
Hypokalemia
Acute intermittent porphyria: A case report
Hyponatremia
Acute intermittent porphyria: A case report
Ichthyosis Vulgaris
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.
Infections
Elevated hepatic lipid and interferon stimulated gene expression in HCV GT3 patients relative to non-alcoholic steatohepatitis.
Infections
Selection and validation of suitable reference genes for qPCR gene expression analysis in goats and sheep under Peste des petits ruminants virus (PPRV), lineage IV infection.
Infections
Systematic selection of housekeeping genes for gene expression normalization in chicken embryo fibroblasts infected with Newcastle disease virus.
Jaundice, Chronic Idiopathic
Porphobilinogen deaminase and the synthesis of porphyrin isomers in the Dubin-Johnson syndrome.
Kidney Failure, Chronic
Determination of erythrocyte uroporphyrinogen I synthetase activity in chronic renal failure.
Leukemia
Examination of Stability of Bone Marrow Blood RNA in the PAXgene Tube.
Leukemia
Porphobilinogen deaminase activity in malignant proliferative disorders of the lymphatic system and bone marrow.
Leukemia
PORPHOBILINOGEN DEAMINASE AND ADENOSINE DEAMINASE ACTIVITY AS A POSSIBLE DIAGNOSTIC AID IN LYMPHATIC LEUKEMIAS.
Leukemia, Erythroblastic, Acute
Porphobilinogen deaminase is unstable in the absence of its substrate.
Leukemia, Erythroblastic, Acute
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter.
Leukemia, Lymphocytic, Chronic, B-Cell
Increased porphobilinogen deaminase activity in patients with malignant lymphoproliferative diseases. A helpful diagnostic test.
Leukemia, Lymphoid
Porphobilinogen deaminase activity in malignant proliferative disorders of the lymphatic system and bone marrow.
Leukoencephalopathies
Acute intermittent porphyria-related leukoencephalopathy.
Leukoencephalopathies
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Lichen Sclerosus et Atrophicus
Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation.
Liver Cirrhosis
Erythrocyte porphobilinogen deaminase activity in liver disease.
Liver Diseases
Erythrocyte porphobilinogen deaminase activity in liver disease.
Liver Diseases
Erythrocyte porphobilinogen deaminase activity in liver diseases and proliferative diseases of the haemopoietic system and lymph nodes.
Liver Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Liver Neoplasms
Emerging therapies for acute intermittent porphyria.
Liver Neoplasms
Erythrocyte porphobilinogen deaminase activity and primary liver cancer.
Liver Neoplasms
Validation of putative reference genes for gene expression studies in human hepatocellular carcinoma using real-time quantitative RT-PCR.
Lymphoma
Increased porphobilinogen deaminase activity in patients with malignant lymphoproliferative diseases. A helpful diagnostic test.
Lymphoma
Lymphocyte urosynthase in non-Hodgkin's lymphoma. An indicator of disease extensiveness.
Lymphoma
[Lymphocyte uroporphyrinogen synthase in the diagnosis of lymphoma and its follow-up]
Lymphoma, Non-Hodgkin
Lymphocyte urosynthase in non-Hodgkin's lymphoma. An indicator of disease extensiveness.
Malaria
Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance in Plasmodium chabaudi but Not in Plasmodium berghei or Plasmodium falciparum During Intraerythrocytic Growth.
Malnutrition
Influence of protein calorie malnutrition and fasting on the activities of delta-aminolevulinic acid dehydratase and porphobilinogen deaminase in rats.
Melanoma
Reproducibility of detection of tyrosinase and MART-1 transcripts in the peripheral blood of melanoma patients: a quality control study using real-time quantitative RT-PCR.
Melanoma, Experimental
Differentiation-dependent photodynamic therapy regulated by porphobilinogen deaminase in B16 melanoma.
Metabolic Diseases
CRIM-positive mutations of acute intermittent porphyria in Finland.
Metabolic Diseases
Diagnosis and Treatment of Acute Intermittent Porphyria.
Metabolic Diseases
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Metabolic Diseases
Emerging therapies for acute intermittent porphyria.
Metabolic Diseases
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.
Metabolic Diseases
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Metabolic Diseases
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
Metabolic Diseases
Neurological manifestations of acute intermittent porphyria.
Metabolic Diseases
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Multiple Sclerosis
Quantitative real-time RT-PCR using hybridization probes and imported standard curves for cytokine gene expression analysis.
Neoplasm Metastasis
Activity of porphobilinogen deaminase in peripheral blood mononuclear cells of patients with metastatic cancer.
Neoplasm, Residual
Examination of Stability of Bone Marrow Blood RNA in the PAXgene Tube.
Neoplasms
A porphobilinogen deaminase (PBGD) Ran-binding protein interaction is implicated in nuclear trafficking of PBGD in differentiating glioma cells.
Neoplasms
A regulatory role for porphobilinogen deaminase (PBGD) in delta-aminolaevulinic acid (delta-ALA)-induced photosensitization?
Neoplasms
Activity of porphobilinogen deaminase in peripheral blood mononuclear cells of patients with metastatic cancer.
Neoplasms
Analysis of the balance between proliferation and apoptosis of cultured vascular smooth muscle cells for tissue-engineering applications.
Neoplasms
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Neoplasms
DC-SCRIPT: nuclear receptor modulation and prognostic significance in primary breast cancer.
Neoplasms
Effect of delta-aminolevulinic acid on protoporphyrin IX accumulation in tumor cells transfected with plasmids containing porphobilinogen deaminase DNA.
Neoplasms
Effect of estrogenic perturbations on delta-aminolevulinic acid-induced porphobilinogen deaminase and protoporphyrin IX levels in rat Harderian glands, liver, and R3230AC tumors.
Neoplasms
Erythrocyte porphobilinogen deaminase activity and primary liver cancer.
Neoplasms
Erythrocyte uroporphyrinogen I synthase in rats treated with the hepatic carcinogen diethylnitrosamine.
Neoplasms
Erythrocyte uroporphyrinogen synthase activity as a possible diagnostic aid in the diagnosis of lymphoproliferative diseases.
Neoplasms
Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
Neoplasms
Identification and Validation of Housekeeping Genes for Gene Expression Analysis of Cancer Stem Cells.
Neoplasms
Increased porphobilinogen deaminase activity in patients with malignant lymphoproliferative diseases. A helpful diagnostic test.
Neoplasms
Metabolic changes in the heme pathway driven by cyclophosphamide treatment in mice.
Neoplasms
Nuclear distribution of porphobilinogen deaminase (PBGD) in glioma cells: a regulatory role in cancer transformation?
Neoplasms
Quantitative cytokine gene expression in human tonsils at excision and during histoculture assessed by standardized and calibrated real-time PCR and novel data processing.
Neoplasms
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Neoplasms
Sex comparison of heme pathway in rats bearing hepatic tumors.
Neoplasms
Validation of putative reference genes for gene expression studies in human hepatocellular carcinoma using real-time quantitative RT-PCR.
Nervous System Diseases
[Acute intermittent porphyria in the puerperium].
Neuroblastoma
Identification and characterization of human LL5A gene and mouse Ll5a gene in silico.
Neurologic Manifestations
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Obesity
Heme Biosynthetic Pathway is Functionally Linked to Adipogenesis via Mitochondrial Respiratory Activity.
Pelger-Huet Anomaly
Impaired heme synthesis in a family with Pelger-Huët anomaly, recurrent abdominal pain attacks and impaired neutrophil motility in vitro.
Perinatal Death
Breast milk donation after neonatal death in Australia: a report.
Peste-des-Petits-Ruminants
Selection and validation of suitable reference genes for qPCR gene expression analysis in goats and sheep under Peste des petits ruminants virus (PPRV), lineage IV infection.
Photosensitivity Disorders
A regulatory role for porphobilinogen deaminase (PBGD) in delta-aminolaevulinic acid (delta-ALA)-induced photosensitization?
Photosensitivity Disorders
Delta-aminolaevulinic acid-induced photodynamic therapy inhibits protoporphyrin IX biosynthesis and reduces subsequent treatment efficacy in vitro.
Plasmacytoma
Porphobilinogen deaminase activity in malignant proliferative disorders of the lymphatic system and bone marrow.
Porphyria Cutanea Tarda
Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda.
Porphyria Cutanea Tarda
Studies on erythrocyte porphobilinogen deaminase and uroporphyrinogen cosynthetase in porphyria cutanea tarda.
Porphyria Cutanea Tarda
The activity of erythrocyte porphobilinogen deaminase in familial and sporadic forms of porphyria cutanea tarda.
Porphyria, Acute Intermittent
"Glucose effect" and rate limiting function of uroporphyrinogen synthase on porphyrin metabolism in hepatocyte culture: relationship with human acute hepatic porphyrias.
Porphyria, Acute Intermittent
A large deletion on chromosome 11 in acute intermittent porphyria.
Porphyria, Acute Intermittent
A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease.
Porphyria, Acute Intermittent
A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.
Porphyria, Acute Intermittent
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyria, Acute Intermittent
A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria.
Porphyria, Acute Intermittent
A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Porphyria, Acute Intermittent
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.
Porphyria, Acute Intermittent
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
Porphyria, Acute Intermittent
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
Porphyria, Acute Intermittent
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
Porphyria, Acute Intermittent
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
Porphyria, Acute Intermittent
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.
Porphyria, Acute Intermittent
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.
Porphyria, Acute Intermittent
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
Porphyria, Acute Intermittent
A spot test for uroporphyrinogen I synthase, the enzyme that is deficient in intermittent acute porphyria.
Porphyria, Acute Intermittent
AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function.
Porphyria, Acute Intermittent
Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria.
Porphyria, Acute Intermittent
Acute intermittent porphyria and mental illness--a family study.
Porphyria, Acute Intermittent
Acute intermittent porphyria and uroporphyrinogen I synthase. Biochemical study of a family.
Porphyria, Acute Intermittent
Acute intermittent porphyria as a cause of respiratory failure: case report.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
Porphyria, Acute Intermittent
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.
Porphyria, Acute Intermittent
Acute Intermittent Porphyria Causes Hepatic Mitochondrial Energetic Failure In A Mouse Model.
Porphyria, Acute Intermittent
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
Porphyria, Acute Intermittent
Acute intermittent porphyria in Argentina: an update.
Porphyria, Acute Intermittent
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.
Porphyria, Acute Intermittent
Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity.
Porphyria, Acute Intermittent
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures.
Porphyria, Acute Intermittent
Acute intermittent porphyria with transient cortical blindness.
Porphyria, Acute Intermittent
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Porphyria, Acute Intermittent
Acute intermittent porphyria-related leukoencephalopathy.
Porphyria, Acute Intermittent
Acute intermittent porphyria: A case report
Porphyria, Acute Intermittent
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
Porphyria, Acute Intermittent
Acute intermittent porphyria: a test of clinical acumen.
Porphyria, Acute Intermittent
Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12.
Porphyria, Acute Intermittent
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Porphyria, Acute Intermittent
Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.
Porphyria, Acute Intermittent
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
Porphyria, Acute Intermittent
Acute intermittent porphyria: clinicopathologic correlation. Report of a case and review of the literature.
Porphyria, Acute Intermittent
Acute intermittent porphyria: diagnostic conundrums.
Porphyria, Acute Intermittent
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Porphyria, Acute Intermittent
Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations.
Porphyria, Acute Intermittent
Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.
Porphyria, Acute Intermittent
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
Porphyria, Acute Intermittent
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
Porphyria, Acute Intermittent
Acute intermittent porphyria: pathophysiology and treatment.
Porphyria, Acute Intermittent
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Porphyria, Acute Intermittent
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
Porphyria, Acute Intermittent
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Porphyria, Acute Intermittent
Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
Porphyria, Acute Intermittent
Acute intermittent porphyria: vector optimization for gene therapy.
Porphyria, Acute Intermittent
Acute porphyrias in the Argentinean population: a review.
Porphyria, Acute Intermittent
Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria.
Porphyria, Acute Intermittent
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study.
Porphyria, Acute Intermittent
An autopsy case of acute porphyria with a decrease of both uroporphyrinogen I synthetase and ferrochelatase activities.
Porphyria, Acute Intermittent
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
An unusual cause of syndrome of inappropriate antidiuretic hormone secretion.
Porphyria, Acute Intermittent
An update of clinical management of acute intermittent porphyria.
Porphyria, Acute Intermittent
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Porphyria, Acute Intermittent
Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria.
Porphyria, Acute Intermittent
Assay for erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate.
Porphyria, Acute Intermittent
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyria, Acute Intermittent
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report.
Porphyria, Acute Intermittent
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.
Porphyria, Acute Intermittent
Biochemical differentiation of the porphyrias.
Porphyria, Acute Intermittent
Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.
Porphyria, Acute Intermittent
Carbamazepine-induced non-hereditary acute porphyria.
Porphyria, Acute Intermittent
Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.
Porphyria, Acute Intermittent
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
Porphyria, Acute Intermittent
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase.
Porphyria, Acute Intermittent
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
Porphyria, Acute Intermittent
Chester porphyria: biochemical studies of a new form of acute porphyria.
Porphyria, Acute Intermittent
Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis.
Porphyria, Acute Intermittent
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Porphyria, Acute Intermittent
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Porphyria, Acute Intermittent
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Porphyria, Acute Intermittent
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Porphyria, Acute Intermittent
CRIM-positive mutations of acute intermittent porphyria in Finland.
Porphyria, Acute Intermittent
Danazol administration to females with menses-associated exacerbations of acute intermittent porphyria.
Porphyria, Acute Intermittent
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.
Porphyria, Acute Intermittent
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.
Porphyria, Acute Intermittent
Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.
Porphyria, Acute Intermittent
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Porphyria, Acute Intermittent
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.
Porphyria, Acute Intermittent
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
Porphyria, Acute Intermittent
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
Porphyria, Acute Intermittent
Detection of four mutations in six unrelated South African patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
Porphyria, Acute Intermittent
Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria.
Porphyria, Acute Intermittent
Determination of porphobilinogen deaminase activity in human erythrocytes: pertinent factors in obtaining optimal conditions for measurements.
Porphyria, Acute Intermittent
Developmental change in activity of red cell porphobilinogen deaminase and its electrophoretic variant in the Japanese population.
Porphyria, Acute Intermittent
Diagnosis and Treatment of Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods.
Porphyria, Acute Intermittent
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Porphyria, Acute Intermittent
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
Porphyria, Acute Intermittent
Differential diagnosis of acute abdominal pain - acute intermittent porphyria.
Porphyria, Acute Intermittent
Disease pharmacokinetic-pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies.
Porphyria, Acute Intermittent
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.
Porphyria, Acute Intermittent
DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.
Porphyria, Acute Intermittent
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Porphyria, Acute Intermittent
Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes.
Porphyria, Acute Intermittent
Effect of lead on hepatic delta-aminolaevulinic acid synthetase activity in the rat: a model for drug sensitivity in intermittent acute porphyria.
Porphyria, Acute Intermittent
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.
Porphyria, Acute Intermittent
Emerging therapies for acute intermittent porphyria.
Porphyria, Acute Intermittent
Erythrocyte hydroxymethylbilane synthase activity in a Chinese family with acute intermittent porphyria.
Porphyria, Acute Intermittent
Erythrocyte porphobilinogen deaminase activity and primary liver cancer.
Porphyria, Acute Intermittent
Erythrocyte uroporphyrinogen I synthase activity as an indicator of acute porphyria.
Porphyria, Acute Intermittent
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
Porphyria, Acute Intermittent
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Porphyria, Acute Intermittent
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Porphyria, Acute Intermittent
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Porphyria, Acute Intermittent
Experience with the red cell uroporphyrinogen synthase (URO-S) assay in kindreds with acute intermittent porphyria (AIP).
Porphyria, Acute Intermittent
False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria.
Porphyria, Acute Intermittent
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
Porphyria, Acute Intermittent
Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Porphyria, Acute Intermittent
Femoral and sciatic nerve block for knee arthroscopy in a patient with acute intermittent porphyria.
Porphyria, Acute Intermittent
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.
Porphyria, Acute Intermittent
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland.
Porphyria, Acute Intermittent
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Porphyria, Acute Intermittent
Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Porphyria, Acute Intermittent
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
Porphyria, Acute Intermittent
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.
Porphyria, Acute Intermittent
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Porphyria, Acute Intermittent
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
Porphyria, Acute Intermittent
Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Porphyria, Acute Intermittent
Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction.
Porphyria, Acute Intermittent
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.
Porphyria, Acute Intermittent
Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression.
Porphyria, Acute Intermittent
Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany.
Porphyria, Acute Intermittent
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
Porphyria, Acute Intermittent
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Porphyria, Acute Intermittent
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Highlights in haem biosynthesis.
Porphyria, Acute Intermittent
HMBS mutations in Chinese patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Porphyria, Acute Intermittent
Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance in Plasmodium chabaudi but Not in Plasmodium berghei or Plasmodium falciparum During Intraerythrocytic Growth.
Porphyria, Acute Intermittent
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
Porphyria, Acute Intermittent
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.
Porphyria, Acute Intermittent
Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
Porphyria, Acute Intermittent
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Porphyria, Acute Intermittent
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
Porphyria, Acute Intermittent
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
Porphyria, Acute Intermittent
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Porphyria, Acute Intermittent
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Identification of acute intermittent porphyria carriers by molecular biologic methods.
Porphyria, Acute Intermittent
Identification of five novel mutations in the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
Porphyria, Acute Intermittent
Immunological determination of porphobilinogen deaminase as a diagnostic measure in acute intermittent porphyria.
Porphyria, Acute Intermittent
Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria.
Porphyria, Acute Intermittent
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Porphyria, Acute Intermittent
Insertion of Alu element responsible for acute intermittent porphyria.
Porphyria, Acute Intermittent
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyria, Acute Intermittent
Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria.
Porphyria, Acute Intermittent
Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.
Porphyria, Acute Intermittent
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Porphyria, Acute Intermittent
Low-cost uroporphyrinogen I synthase screening for acute intermittent porphyria.
Porphyria, Acute Intermittent
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Porphyria, Acute Intermittent
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Porphyria, Acute Intermittent
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Porphyria, Acute Intermittent
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
Porphyria, Acute Intermittent
Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretation.
Porphyria, Acute Intermittent
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.
Porphyria, Acute Intermittent
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Porphyria, Acute Intermittent
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Porphyria, Acute Intermittent
Molecular basis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Porphyria, Acute Intermittent
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.
Porphyria, Acute Intermittent
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).
Porphyria, Acute Intermittent
Molecular diagnosis of acute intermittent porphyria by analysis of DNA extracted from hair roots.
Porphyria, Acute Intermittent
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Porphyria, Acute Intermittent
Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting.
Porphyria, Acute Intermittent
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Porphyria, Acute Intermittent
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
Porphyria, Acute Intermittent
Mutations in acute intermittent porphyria detected by ELISA measurement of porphobilinogen deaminase.
Porphyria, Acute Intermittent
Nerve function and dysfunction in acute intermittent porphyria.
Porphyria, Acute Intermittent
Network analysis of hydroxymethylbilane synthase dynamics.
Porphyria, Acute Intermittent
Neurological manifestations of acute intermittent porphyria.
Porphyria, Acute Intermittent
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
Porphyria, Acute Intermittent
Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.
Porphyria, Acute Intermittent
Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells.
Porphyria, Acute Intermittent
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
Porphyria, Acute Intermittent
Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.
Porphyria, Acute Intermittent
Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Porphyria, Acute Intermittent
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.
Porphyria, Acute Intermittent
PORPHOBILINOGEN DEAMINASE deficiency alters vegetative and reproductive development and causes lesions in Arabidopsis.
Porphyria, Acute Intermittent
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.
Porphyria, Acute Intermittent
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Porphyria, Acute Intermittent
Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
Porphyria, Acute Intermittent
Porphobilinogen deaminase gene structure and molecular defects.
Porphyria, Acute Intermittent
Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes.
Porphyria, Acute Intermittent
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
Porphyria, Acute Intermittent
Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation.
Porphyria, Acute Intermittent
Prevalence of acute intermittent porphyria in a Mexican psychiatric population.
Porphyria, Acute Intermittent
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.
Porphyria, Acute Intermittent
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.
Porphyria, Acute Intermittent
Purple pigments: The pathophysiology of acute porphyric neuropathy.
Porphyria, Acute Intermittent
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.
Porphyria, Acute Intermittent
Rat kidney porphobilinogen deaminase kinetics. Detection of enzyme-substrate complexes.
Porphyria, Acute Intermittent
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Porphyria, Acute Intermittent
Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.
Porphyria, Acute Intermittent
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Porphyria, Acute Intermittent
Recurrent Seizures in an Adolescent Female-A Daunting Puzzle.
Porphyria, Acute Intermittent
Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria.
Porphyria, Acute Intermittent
Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.
Porphyria, Acute Intermittent
Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.
Porphyria, Acute Intermittent
Renal transplantation in a case of acute intermittent porphyria.
Porphyria, Acute Intermittent
Residual activity of human porphobilinogen deaminase with R167Q or R167W mutations: an explanation for survival of homozygous and compound heterozygous acute intermittent porphyrics.
Porphyria, Acute Intermittent
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene.
Porphyria, Acute Intermittent
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.
Porphyria, Acute Intermittent
RFLP analysis of three different types of acute intermittent porphyria.
Porphyria, Acute Intermittent
Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients.
Porphyria, Acute Intermittent
Safety and liver transduction efficacy of rAAV5-cohPBGD in non-human primates: A potential therapy for Acute Intermitent Porphyria.
Porphyria, Acute Intermittent
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.
Porphyria, Acute Intermittent
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria.
Porphyria, Acute Intermittent
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyria, Acute Intermittent
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
Porphyria, Acute Intermittent
Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system.
Porphyria, Acute Intermittent
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.
Porphyria, Acute Intermittent
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
Porphyria, Acute Intermittent
Sustained Enzymatic Correction by rAAV-Mediated Liver Gene Therapy Protects Against Induced Motor Neuropathy in Acute Porphyria Mice.
Porphyria, Acute Intermittent
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Porphyria, Acute Intermittent
Systemic Administered mRNA as Therapy for Metabolic Diseases.
Porphyria, Acute Intermittent
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.
Porphyria, Acute Intermittent
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.
Porphyria, Acute Intermittent
The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, the enzyme that is deficient in intermittent acute porphyria.
Porphyria, Acute Intermittent
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Porphyria, Acute Intermittent
The tolerability of newer immunosuppressive medications in a patient with acute intermittent porphyria.
Porphyria, Acute Intermittent
The use of rocuronium and sevoflurane in acute intermittent porphyria--a case report.
Porphyria, Acute Intermittent
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Porphyria, Acute Intermittent
Therapeutic strategies for acute intermittent porphyria.
Porphyria, Acute Intermittent
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
Porphyria, Acute Intermittent
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.
Porphyria, Acute Intermittent
Tissue-specific splicing mutation in acute intermittent porphyria.
Porphyria, Acute Intermittent
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
Porphyria, Acute Intermittent
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
Porphyria, Acute Intermittent
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
Porphyria, Acute Intermittent
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
Porphyria, Acute Intermittent
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Porphyria, Acute Intermittent
Uroporphyrinogen synthetase in erythrocytes. Its diagnostic value in latent acute intermittent porphyria with special regard to the gene penetrance.
Porphyria, Acute Intermittent
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Porphyria, Acute Intermittent
Variable phenotypic expression of genotypic abnormalities in the porphyrias.
Porphyria, Acute Intermittent
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyria, Acute Intermittent
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria.
Porphyria, Acute Intermittent
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
Porphyria, Acute Intermittent
[A 25-year-old patient with colonic pseudo-obstruction, hyponatremia, hypertension, and diffuse pain]
Porphyria, Acute Intermittent
[Acute intermittent porphyria and chronic transaminase elevation]
Porphyria, Acute Intermittent
[Acute intermittent porphyria in the puerperium].
Porphyria, Acute Intermittent
[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect]
Porphyria, Acute Intermittent
[Acute intermittent porphyria: Long-term follow up of 35 patients].
Porphyria, Acute Intermittent
[Acute intermittent porphyria]
Porphyria, Acute Intermittent
[Determination of uroporphyrinogen I synthase in whole blood--a method for the diagnosis and early recognition of acute intermittent porphyria]
Porphyria, Acute Intermittent
[Diagnosis of acute intermittent porphyria on the basis of uroporphyrinogen I synthase activity in the erythrocytes; comparison of 2 methods]
Porphyria, Acute Intermittent
[Enzyme deficiency of erythrocytes in human porphyria]
Porphyria, Acute Intermittent
[Evaluation of the diagnostic usefulness of determining porphobilinogen deaminase activity in the erythrocytes in patients with acute intermittent porphyria and in carriers of the gene of this type of porphyria]
Porphyria, Acute Intermittent
[Letter: Determination of uroporphyrinogen I synthetase in intermittent acute porphyria. 7 cases]
Porphyria, Acute Intermittent
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene]
Porphyria, Acute Intermittent
[Normal activity of uroporphyrinogen I synthase during an attack of acute intermittent porphyria]
Porphyria, Acute Intermittent
[Plasma and salivary markers of oxidative and carbonyl stress in patients with acute intermittent porphyria].
Porphyria, Acute Intermittent
[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia]
Porphyria, Acute Intermittent
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia]
Porphyria, Acute Intermittent
[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria]
Porphyria, Acute Intermittent
[Uroporphyrinogen synthase in erythrocytes in acute intermittent porphyria: new pathobiochemical aspects (author's transl)]
Porphyria, Erythropoietic
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.
Porphyria, Erythropoietic
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Porphyria, Erythropoietic
The activities of uroporphyrinogen synthetase and cosynthetase in congenital erythropoietic porphyria (CEP).
Porphyria, Erythropoietic
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
Porphyria, Erythropoietic
[Pathobiochemical observations on porphyrias--the correlation between uroporphyrinogen I synthetase and III cosynthetase activity in congenital erythropoietic porphyria (author's transl)]
Porphyria, Variegate
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyria, Variegate
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria.
Porphyria, Variegate
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyria, Variegate
Chester porphyria: biochemical studies of a new form of acute porphyria.
Porphyria, Variegate
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyria, Variegate
Kidney damage in acute intermittent porphyria.
Porphyria, Variegate
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria.
Porphyria, Variegate
Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.
Porphyria, Variegate
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyria, Variegate
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyrias
"Glucose effect" and rate limiting function of uroporphyrinogen synthase on porphyrin metabolism in hepatocyte culture: relationship with human acute hepatic porphyrias.
Porphyrias
A large deletion on chromosome 11 in acute intermittent porphyria.
Porphyrias
A microassay for uroporphyrinogen I synthase, one of three abnormal enzyme activities in acute intermittent porphyria, and its application to the study of the genetics of this disease.
Porphyrias
A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyria.
Porphyrias
A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family.
Porphyrias
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Porphyrias
A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria.
Porphyrias
A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Porphyrias
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report.
Porphyrias
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria.
Porphyrias
A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
Porphyrias
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria.
Porphyrias
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
Porphyrias
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria.
Porphyrias
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
Porphyrias
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria.
Porphyrias
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy.
Porphyrias
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
Porphyrias
AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function.
Porphyrias
Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria.
Porphyrias
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Porphyrias
Acute intermittent porphyria and mental illness--a family study.
Porphyrias
Acute intermittent porphyria and uroporphyrinogen I synthase. Biochemical study of a family.
Porphyrias
Acute intermittent porphyria as a cause of respiratory failure: case report.
Porphyrias
Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
Porphyrias
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
Porphyrias
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.
Porphyrias
Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.
Porphyrias
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.
Porphyrias
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.
Porphyrias
Acute Intermittent Porphyria Causes Hepatic Mitochondrial Energetic Failure In A Mouse Model.
Porphyrias
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
Porphyrias
Acute intermittent porphyria in Argentina: an update.
Porphyrias
Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Porphyrias
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Porphyrias
Acute intermittent porphyria in The Netherlands. Heterogeneity of the enzyme porphobilinogen deaminase.
Porphyrias
Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity.
Porphyrias
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome: A Rare Cause of Abdominal Pain and Seizures.
Porphyrias
Acute intermittent porphyria with transient cortical blindness.
Porphyrias
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Porphyrias
Acute intermittent porphyria-related leukoencephalopathy.
Porphyrias
Acute intermittent porphyria: A case report
Porphyrias
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
Porphyrias
Acute intermittent porphyria: a test of clinical acumen.
Porphyrias
Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12.
Porphyrias
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Porphyrias
Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate.
Porphyrias
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
Porphyrias
Acute intermittent porphyria: clinicopathologic correlation. Report of a case and review of the literature.
Porphyrias
Acute intermittent porphyria: diagnostic conundrums.
Porphyrias
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Porphyrias
Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations.
Porphyrias
Acute intermittent porphyria: heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy.
Porphyrias
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
Porphyrias
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
Porphyrias
Acute intermittent porphyria: pathophysiology and treatment.
Porphyrias
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.
Porphyrias
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France.
Porphyrias
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Porphyrias
Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase.
Porphyrias
Acute intermittent porphyria: vector optimization for gene therapy.
Porphyrias
Acute porphyrias in the Argentinean population: a review.
Porphyrias
Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria.
Porphyrias
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study.
Porphyrias
Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria.
Porphyrias
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria.
Porphyrias
An unusual cause of syndrome of inappropriate antidiuretic hormone secretion.
Porphyrias
An update of clinical management of acute intermittent porphyria.
Porphyrias
Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.
Porphyrias
Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria.
Porphyrias
Assay for erythrocyte uroporphyrinogen I synthase activity, with porphobilinogen as substrate.
Porphyrias
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
Porphyrias
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report.
Porphyrias
Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement.
Porphyrias
Biochemical differentiation of the porphyrias.
Porphyrias
Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.
Porphyrias
Carbamazepine-induced non-hereditary acute porphyria.
Porphyrias
Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP.
Porphyrias
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
Porphyrias
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase.
Porphyrias
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
Porphyrias
Chester porphyria: biochemical studies of a new form of acute porphyria.
Porphyrias
Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis.
Porphyrias
Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.
Porphyrias
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Porphyrias
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria.
Porphyrias
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Porphyrias
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Porphyrias
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Porphyrias
CRIM-positive mutations of acute intermittent porphyria in Finland.
Porphyrias
Danazol administration to females with menses-associated exacerbations of acute intermittent porphyria.
Porphyrias
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.
Porphyrias
Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks.
Porphyrias
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Porphyrias
Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.
Porphyrias
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyrias
Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
Porphyrias
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
Porphyrias
Detection of four mutations in six unrelated South African patients with acute intermittent porphyria.
Porphyrias
Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
Porphyrias
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
Porphyrias
Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria.
Porphyrias
Determination of porphobilinogen deaminase activity in human erythrocytes: pertinent factors in obtaining optimal conditions for measurements.
Porphyrias
Developmental change in activity of red cell porphobilinogen deaminase and its electrophoretic variant in the Japanese population.
Porphyrias
Diagnosis and Treatment of Acute Intermittent Porphyria.
Porphyrias
Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods.
Porphyrias
Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis.
Porphyrias
Differential diagnosis of acute abdominal pain - acute intermittent porphyria.
Porphyrias
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.
Porphyrias
Disease pharmacokinetic-pharmacodynamic modelling in acute intermittent porphyria to support the development of mRNA-based therapies.
Porphyrias
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.
Porphyrias
DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria.
Porphyrias
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
Porphyrias
Dual porphyria with mutations in both the UROD and HMBS genes.
Porphyrias
Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.
Porphyrias
Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes.
Porphyrias
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs.
Porphyrias
Emerging therapies for acute intermittent porphyria.
Porphyrias
Erythrocyte hydroxymethylbilane synthase activity in a Chinese family with acute intermittent porphyria.
Porphyrias
Erythrocyte porphobilinogen deaminase activity and primary liver cancer.
Porphyrias
Erythrocyte porphobilinogen deaminase activity in porphyria cutanea tarda.
Porphyrias
Erythrocyte uroporphyrinogen I synthase activity in diagnosis of acute intermittent porphyria.
Porphyrias
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
Porphyrias
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.
Porphyrias
Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria.
Porphyrias
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
Porphyrias
Experience with the red cell uroporphyrinogen synthase (URO-S) assay in kindreds with acute intermittent porphyria (AIP).
Porphyrias
False-positive accumulation of metaiodobenzylguanidine in a case with acute intermittent porphyria.
Porphyrias
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
Porphyrias
Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria.
Porphyrias
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Porphyrias
Femoral and sciatic nerve block for knee arthroscopy in a patient with acute intermittent porphyria.
Porphyrias
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyrias
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria.
Porphyrias
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland.
Porphyrias
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Porphyrias
Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyria.
Porphyrias
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Porphyrias
Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Porphyrias
Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Porphyrias
Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Porphyrias
Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Porphyrias
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.
Porphyrias
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria.
Porphyrias
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Porphyrias
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency.
Porphyrias
Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.
Porphyrias
Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.
Porphyrias
Haplotyping of the human porphobilinogen deaminase gene in acute intermittent porphyria by polymerase chain reaction.
Porphyrias
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice.
Porphyrias
Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression.
Porphyrias
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria.
Porphyrias
Heteroduplex analysis detects frameshift and point mutations in patients with acute intermittent porphyria.
Porphyrias
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany.
Porphyrias
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.
Porphyrias
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
Porphyrias
High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria.
Porphyrias
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.
Porphyrias
Highlights in haem biosynthesis.
Porphyrias
HMBS mutations in Chinese patients with acute intermittent porphyria.
Porphyrias
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
Porphyrias
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria.
Porphyrias
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP.
Porphyrias
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.
Porphyrias
Hydroxymethylbilane Synthase Gene Mutations and Polymorphisms in Brazilian Families with Acute Intermittent Porphyria.
Porphyrias
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
Porphyrias
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Porphyrias
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Porphyrias
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
Porphyrias
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
Porphyrias
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Porphyrias
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Porphyrias
Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.
Porphyrias
Identification of acute intermittent porphyria carriers by molecular biologic methods.
Porphyrias
Identification of five novel mutations in the porphobilinogen deaminase gene.
Porphyrias
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
Porphyrias
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
Porphyrias
Immunological determination of porphobilinogen deaminase as a diagnostic measure in acute intermittent porphyria.
Porphyrias
Increased activity of porphobilinogen deaminase in erythrocytes during attacks of acute intermittent porphyria.
Porphyrias
Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.
Porphyrias
Insertion of Alu element responsible for acute intermittent porphyria.
Porphyrias
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyrias
Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria.
Porphyrias
Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.
Porphyrias
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.
Porphyrias
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
Porphyrias
Low-cost uroporphyrinogen I synthase screening for acute intermittent porphyria.
Porphyrias
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Porphyrias
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Porphyrias
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Porphyrias
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
Porphyrias
Modified erythrocyte uroporphyrinogen I synthase assay, and its clinical interpretation.
Porphyrias
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Porphyrias
Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.
Porphyrias
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin.
Porphyrias
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Porphyrias
Molecular basis of acute intermittent porphyria.
Porphyrias
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Porphyrias
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.
Porphyrias
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.
Porphyrias
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).
Porphyrias
Molecular diagnosis of acute intermittent porphyria by analysis of DNA extracted from hair roots.
Porphyrias
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Porphyrias
Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting.
Porphyrias
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Porphyrias
Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Porphyrias
Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
Porphyrias
Mutations in acute intermittent porphyria detected by ELISA measurement of porphobilinogen deaminase.
Porphyrias
Nerve function and dysfunction in acute intermittent porphyria.
Porphyrias
Network analysis of hydroxymethylbilane synthase dynamics.
Porphyrias
Neurological manifestations of acute intermittent porphyria.
Porphyrias
New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.
Porphyrias
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Porphyrias
Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
Porphyrias
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene.
Porphyrias
Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria.
Porphyrias
Non-viral mediated gene transfer of porphobilinogen deaminase into mammalian cells.
Porphyrias
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
Porphyrias
Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.
Porphyrias
Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
Porphyrias
Novel human pathological mutations. Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Porphyrias
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Porphyrias
Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent.
Porphyrias
Novel human pathological mutations. Gene symbol: HMBS. Disease: porphyria, acute intermittent.
Porphyrias
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria.
Porphyrias
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.
Porphyrias
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Porphyrias
Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
Porphyrias
Porphobilinogen deaminase gene structure and molecular defects.
Porphyrias
Porphobilinogen deaminase in acute intermittent porphyria: activity and concentration in erythrocytes and lymphocytes.
Porphyrias
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.
Porphyrias
Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation.
Porphyrias
Prevalence of acute intermittent porphyria in a Mexican psychiatric population.
Porphyrias
Proteasomal degradation regulates expression of porphobilinogen deaminase (PBGD) mutants of acute intermittent porphyria.
Porphyrias
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria.
Porphyrias
Purple pigments: The pathophysiology of acute porphyric neuropathy.
Porphyrias
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria.
Porphyrias
Rat kidney porphobilinogen deaminase kinetics. Detection of enzyme-substrate complexes.
Porphyrias
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Porphyrias
Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: a Bayesian approach.
Porphyrias
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.
Porphyrias
Recurrent Seizures in an Adolescent Female-A Daunting Puzzle.
Porphyrias
Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria.
Porphyrias
Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.
Porphyrias
Reference values of 5-aminolevulinate dehydrase and porphobilinogen deaminase in the Spanish population from Madrid.
Porphyrias
Renal transplantation in a case of acute intermittent porphyria.
Porphyrias
Residual activity of human porphobilinogen deaminase with R167Q or R167W mutations: an explanation for survival of homozygous and compound heterozygous acute intermittent porphyrics.
Porphyrias
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene.
Porphyrias
Reversible splenial lesion syndrome (RESLES) due to acute intermittent porphyria with a novel mutation in the hydroxymethylbilane synthase gene.
Porphyrias
RFLP analysis of three different types of acute intermittent porphyria.
Porphyrias
Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients.
Porphyrias
Safety and liver transduction efficacy of rAAV5-cohPBGD in non-human primates: A potential therapy for Acute Intermitent Porphyria.
Porphyrias
Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.
Porphyrias
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria.
Porphyrias
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Porphyrias
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria.
Porphyrias
Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system.
Porphyrias
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria.
Porphyrias
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Porphyrias
Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.
Porphyrias
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
Porphyrias
Studies on erythrocyte porphobilinogen deaminase and uroporphyrinogen cosynthetase in porphyria cutanea tarda.
Porphyrias
Sustained Enzymatic Correction by rAAV-Mediated Liver Gene Therapy Protects Against Induced Motor Neuropathy in Acute Porphyria Mice.
Porphyrias
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Porphyrias
Systemic Administered mRNA as Therapy for Metabolic Diseases.
Porphyrias
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria.
Porphyrias
The activity of erythrocyte porphobilinogen deaminase in familial and sporadic forms of porphyria cutanea tarda.
Porphyrias
The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.
Porphyrias
The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.
Porphyrias
The tolerability of newer immunosuppressive medications in a patient with acute intermittent porphyria.
Porphyrias
The use of rocuronium and sevoflurane in acute intermittent porphyria--a case report.
Porphyrias
The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study.
Porphyrias
Therapeutic strategies for acute intermittent porphyria.
Porphyrias
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
Porphyrias
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.
Porphyrias
Tissue-specific splicing mutation in acute intermittent porphyria.
Porphyrias
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.
Porphyrias
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
Porphyrias
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
Porphyrias
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
Porphyrias
Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.
Porphyrias
Uroporphyrinogen synthetase in erythrocytes. Its diagnostic value in latent acute intermittent porphyria with special regard to the gene penetrance.
Porphyrias
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Porphyrias
Variable phenotypic expression of genotypic abnormalities in the porphyrias.
Porphyrias
Variations in erythrocyte uroporphyrinogen I synthetase activity in non porphyrias.
Porphyrias
Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.
Porphyrias
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria.
Porphyrias
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.
Porphyrias
[A 25-year-old patient with colonic pseudo-obstruction, hyponatremia, hypertension, and diffuse pain]
Porphyrias
[Acute intermittent porphyria and chronic transaminase elevation]
Porphyrias
[Acute intermittent porphyria in the puerperium].
Porphyrias
[Acute intermittent porphyria: Long-term follow up of 35 patients].
Porphyrias
[Acute intermittent porphyria]
Porphyrias
[Determination of uroporphyrinogen I synthase in whole blood--a method for the diagnosis and early recognition of acute intermittent porphyria]
Porphyrias
[Diagnosis of acute intermittent porphyria on the basis of uroporphyrinogen I synthase activity in the erythrocytes; comparison of 2 methods]
Porphyrias
[Effect of starvation and phenobarbital on the activity of liver uroporphyrinogen synthetase]
Porphyrias
[Enzyme deficiency of erythrocytes in human porphyria]
Porphyrias
[Evaluation of the diagnostic usefulness of determining porphobilinogen deaminase activity in the erythrocytes in patients with acute intermittent porphyria and in carriers of the gene of this type of porphyria]
Porphyrias
[Genetic studies of families of patients with porphyria. Determination of uroporphyrinogen I synthase in the erythrocytes]
Porphyrias
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene]
Porphyrias
[Normal activity of uroporphyrinogen I synthase during an attack of acute intermittent porphyria]
Porphyrias
[Plasma and salivary markers of oxidative and carbonyl stress in patients with acute intermittent porphyria].
Porphyrias
[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia]
Porphyrias
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia]
Porphyrias
[Three single nucleotide polymorphisms of porphobilinogen deaminase gene related to a Chinese patient with acute intermittent porphyria]
Porphyrias
[Uroporphyrinogen synthase in erythrocytes in acute intermittent porphyria: new pathobiochemical aspects (author's transl)]
Porphyrias, Hepatic
"Glucose effect" and rate limiting function of uroporphyrinogen synthase on porphyrin metabolism in hepatocyte culture: relationship with human acute hepatic porphyrias.
Porphyrias, Hepatic
AAV8-mediated Gene Therapy Prevents Induced Biochemical Attacks of Acute Intermittent Porphyria and Improves Neuromotor Function.
Porphyrias, Hepatic
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
Porphyrias, Hepatic
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.
Porphyrias, Hepatic
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Porphyrias, Hepatic
Acute intermittent porphyria: a test of clinical acumen.
Porphyrias, Hepatic
Coexistence of hereditary coproporphyria with acute intermittent porphyria.
Porphyrias, Hepatic
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.
Porphyrias, Hepatic
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands.
Porphyrias, Hepatic
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Porphyrias, Hepatic
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Porphyrias, Hepatic
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
Porphyrias, Hepatic
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Porphyrias, Hepatic
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias.
Porphyrias, Hepatic
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.
Porphyrias, Hepatic
Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.
Porphyrias, Hepatic
Relationships between acute hepatic porphyrias due to genetic variability of primary enzyme defects and limiting function of uroporphyrinogen synthase.
Posterior Leukoencephalopathy Syndrome
A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.
Protein-Energy Malnutrition
Influence of protein calorie malnutrition and fasting on the activities of delta-aminolevulinic acid dehydratase and porphobilinogen deaminase in rats.
Protoporphyria, Erythropoietic
Protoporphyrinaemia and decreased activities of 5-aminolevulinic acid dehydrase and uroporphyrinogen I synthetase in erythrocytes of a Vitamin B6-deficient epileptic boy given valproic acid and carbamazepine.
protoporphyrin ferrochelatase deficiency
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant.
Renal Insufficiency
Emerging therapies for acute intermittent porphyria.
Renal Insufficiency
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse.
Rhabdomyolysis
A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
Sarcoma
Identification and Validation of Housekeeping Genes for Gene Expression Analysis of Cancer Stem Cells.
Squamous Cell Carcinoma of Head and Neck
Reference gene selection for head and neck squamous cell carcinoma gene expression studies.
Starvation
[Effect of starvation and phenobarbital on the activity of liver uroporphyrinogen synthetase]
Stroke
Increased cerebral expressions of MMPs, CLDN5, OCLN, ZO1 and AQPs are associated with brain edema following fatal heat stroke.
Tachycardia
Acute intermittent porphyria: A case report
Thyroid Cancer, Papillary
Validation of Reference Genes for Normalization of Relative qRT-PCR Studies in Papillary Thyroid Carcinoma.
Tuberculosis
Time-resolved and static-ensemble structural chemistry of hydroxymethylbilane synthase.
Urinary Bladder Neoplasms
Expression of ferrochelatase has a strong correlation in protoporphyrin IX accumulation with photodynamic detection of bladder cancer.
Urinary Bladder Neoplasms
Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer.
Urinary Bladder Neoplasms
Selection of endogenous control genes for normalising gene expression data derived from formalin-fixed paraffin-embedded tumour tissue.
uroporphyrinogen decarboxylase deficiency
Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
Virus Diseases
Alginate microencapsulated human hepatocytes for the treatment of acute liver failure in children.
Virus Diseases
Endogenous gene selection for relative quantification PCR and IL6 transcript levels in the PBMC's of severe and non-severe dengue cases.
Virus Diseases
Erythrocyte uroporphyrinogen synthase activity as a possible diagnostic aid in the diagnosis of lymphoproliferative diseases.
Wilms Tumor
Examination of Stability of Bone Marrow Blood RNA in the PAXgene Tube.
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2.5.1.61 hydroxymethylbilane synthase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
