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Acidosis, Lactic
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Adenocarcinoma
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.
Arthritis
The importance of timing of adrenergic drug delivery in relation to the induction and onset of adjuvant-induced arthritis.
Asthma
Prostaglandins, steroids and reception (an attempt to model the structure of the active centers of adrenoreception).
Brain Diseases
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Brain Diseases
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Brain Diseases
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Brain Diseases
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Brain Diseases
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Brain Diseases
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy.
Brain Diseases
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Brain Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Breast Neoplasms
Adrenoceptors: non conventional target for breast cancer?
Carcinogenesis
Aldehyde dehydrogenase 3A1 associates with prostate tumorigenesis.
Carcinogenesis
The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
Carcinoma
ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
Carcinoma
Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
Carcinoma
The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
Carcinoma, Non-Small-Cell Lung
ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
Cardiovascular Diseases
Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population.
Cataract
Congenital cataract in a child with pyridoxine-dependent epilepsy.
Coloboma
aldh7a1 regulates eye and limb development in zebrafish.
Colonic Neoplasms
Cloning and characterization of a novel human homolog* of mouse U26, a putative PQQ-dependent AAS dehydrogenase.
Congenital Abnormalities
Identification of genes related to beak deformity of chickens using digital gene expression profiling.
Dehydration
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
Dehydration
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
Dehydration
Arabidopsis and tobacco plants ectopically expressing the soybean antiquitin-like ALDH7 gene display enhanced tolerance to drought, salinity, and oxidative stress.
Dehydration
Congenital cataract in a child with pyridoxine-dependent epilepsy.
Diabetes Mellitus, Type 2
Heightened norepinephrine-mediated vasoconstriction in type 2 diabetes.
Diabetes Mellitus, Type 2
Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis.
Drug Resistant Epilepsy
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Drug Resistant Epilepsy
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.
Encephalomalacia
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Epilepsies, Myoclonic
Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
Epilepsies, Myoclonic
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy
A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations.
Epilepsy
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Epilepsy
A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
Epilepsy
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
Epilepsy
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Epilepsy
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Epilepsy
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
Epilepsy
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Epilepsy
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.
Epilepsy
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.
Epilepsy
Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
Epilepsy
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
Epilepsy
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Epilepsy
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Epilepsy
Callosal alterations in pyridoxine-dependent epilepsy.
Epilepsy
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
Epilepsy
Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants.
Epilepsy
Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.
Epilepsy
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Epilepsy
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epilepsy
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
Epilepsy
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.
Epilepsy
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
Epilepsy
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient.
Epilepsy
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Epilepsy
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Epilepsy
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
Epilepsy
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
Epilepsy
Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.
Epilepsy
Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1.
Epilepsy
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Epilepsy
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Epilepsy
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Epilepsy
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome.
Epilepsy
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Epilepsy
Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by ALDH7A1 genetic defect.
Epilepsy
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
Epilepsy
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Epilepsy
New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency.
Epilepsy
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
Epilepsy
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Epilepsy
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Epilepsy
Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Epilepsy
Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Epilepsy
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Epilepsy
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Epilepsy
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Epilepsy
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Epilepsy
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: The distinction just got murkier.
Epilepsy
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
Epilepsy
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
Epilepsy
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Epilepsy
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Epilepsy
Pyridoxine-dependent epilepsy with elevated urinary ?-amino adipic semialdehyde in molybdenum cofactor deficiency.
Epilepsy
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Epilepsy
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Epilepsy
Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.
Epilepsy
Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.
Epilepsy
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Epilepsy
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy.
Epilepsy
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Epileptic Syndromes
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
Esophageal Squamous Cell Carcinoma
The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
Fibromyalgia
Association of adrenergic receptor gene polymorphisms with different fibromyalgia syndrome domains.
Genetic Diseases, Inborn
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Glaucoma
Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse.
Heart Failure
Prevention of heart failure in rats by trimetazidine treatment: a consequence of accelerated phospholipid turnover?
Hyperglycinemia, Nonketotic
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Hypertension
Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population.
Hypoglycemia
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Hypoventilation
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Infections
Administration of a recombinant ALDH7A1 (rA7) indicates potential regulation of the metabolite and immunology pathways in Atlantic salmon infected with Aeromonas salmonicida.
Infections
ALDH7A1 is a protein that protects Atlantic salmon against Aeromonas salmonicida at the early stages of infection.
Intellectual Disability
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Intellectual Disability
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
Intracranial Hemorrhages
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
l-aminoadipate-semialdehyde dehydrogenase deficiency
A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
l-aminoadipate-semialdehyde dehydrogenase deficiency
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Disorders Affecting Vitamin B6 metabolism.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
l-aminoadipate-semialdehyde dehydrogenase deficiency
Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Inherited Disorders of Lysine Metabolism: A Review.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
l-aminoadipate-semialdehyde dehydrogenase deficiency
New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Personalized medicine in genetic epilepsies - possibilities, challenges, and new frontiers.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine responsiveness in novel mutations of the PNPO gene.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Pyridoxine-dependent epilepsy: report on three families with neuropathology.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
l-aminoadipate-semialdehyde dehydrogenase deficiency
The measurement of urinary ?(1)-piperideine-6-carboxylate, the alter ego of ?-aminoadipic semialdehyde, in Antiquitin deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Update on the treatment of vitamin B6 dependent epilepsies.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
l-aminoadipate-semialdehyde dehydrogenase deficiency
Vitamin B6 related epilepsy during childhood.
Lactose Intolerance
[Role of genetics in prediction of osteoporosis risk].
Liver Neoplasms
Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
Melanoma
Integrative Genomics Identifies Molecular Alterations that Challenge the Linear Model of Melanoma Progression.
Menkes Kinky Hair Syndrome
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Metabolic Diseases
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Muscular Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Neoplasm Metastasis
Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
Neoplasm Metastasis
The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
Neoplasms
(1) H NMR spectroscopy of glioblastoma stem-like cells identifies alpha-aminoadipate as a marker of tumor aggressiveness.
Neoplasms
Annexin A1 is involved in the acquisition and maintenance of a stem cell-like/aggressive phenotype in prostate cancer cells with acquired resistance to zoledronic acid.
Neoplasms
Characterization of aldehyde dehydrogenase isozymes in ovarian cancer tissues and sphere cultures.
Neoplasms
Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
Neoplasms
Metabolic enzymes expressed by cancer cells impact the immune infiltrate.
Neoplasms
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.
Neoplasms
The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
Neoplasms
The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
Osteoporosis
Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
Pancreatic Neoplasms
EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Prostatic Hyperplasia
alpha1-adrenoceptors and bladder function.
Prostatic Neoplasms
Aldehyde dehydrogenase 3A1 associates with prostate tumorigenesis.
Prostatic Neoplasms
The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
Protein Deficiency
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
pyridoxal 5'-phosphate synthase deficiency
Vitamin B6 related epilepsy during childhood.
Pyruvate Dehydrogenase Complex Deficiency Disease
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Seizures
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
Seizures
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.
Seizures
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Seizures
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Seizures
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Seizures
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Seizures
Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Seizures
Effects of vitamin B6 metabolism on oncogenesis, tumor progression and therapeutic responses.
Seizures
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.
Seizures
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
Seizures
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
Seizures
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Seizures
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Seizures
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Seizures
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Seizures
Is antiquitin a mitochondrial Enzyme?
Seizures
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
Seizures
Long-term outcome in pyridoxine-dependent epilepsy.
Seizures
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Seizures
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
Seizures
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Seizures
Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures.
Seizures
Neonatal vitamin-responsive epileptic encephalopathies.
Seizures
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Seizures
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Seizures
Pyridoxine and pyridoxalphosphate-dependent epilepsies.
Seizures
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Seizures
Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: The distinction just got murkier.
Seizures
Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.
Seizures
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Seizures
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Seizures
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Seizures
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Seizures
Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.
Seizures
Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime.
Seizures
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy.
Seizures
Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
Seizures
The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia.
Seizures
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Seizures
The pediatric neurotransmitter disorders.
Seizures
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
Seizures
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Spasm
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Spasms, Infantile
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Spasms, Infantile
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Spasms, Infantile
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Starvation
ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis.
Status Epilepticus
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
Subarachnoid Hemorrhage
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase deficiency
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
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