Disease on EC 3.1.6.4 - N-acetylgalactosamine-6-sulfatase
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adenine phosphoribosyltransferase deficiency
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Bone Diseases, Developmental
The effects of acid glycosaminoglycans on neonatal calvarian cultures--a role of keratan sulfate in Morquio syndrome?
Breast Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Colonic Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Congenital Abnormalities
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Gaucher Disease
Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.
Genetic Diseases, Inborn
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Glycogen Storage Disease Type II
Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.
Head and Neck Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Heart Valve Diseases
Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
Liver Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Lung Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Lysosomal Storage Diseases
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Lysosomal Storage Diseases
Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations.
Lysosomal Storage Diseases
Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment.
Lysosomal Storage Diseases
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
Lysosomal Storage Diseases
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.
Lysosomal Storage Diseases
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Lysosomal Storage Diseases
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
Lysosomal Storage Diseases
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.
Lysosomal Storage Diseases
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Lysosomal Storage Diseases
Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts.
Lysosomal Storage Diseases
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Lysosomal Storage Diseases
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Lysosomal Storage Diseases
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
Lysosomal Storage Diseases
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
Lysosomal Storage Diseases
Multimerization of DAB-1 onto Au GNPs affords new potent and selective N-acetylgalactosamine-6-sulfatase (GALNS) inhibitors.
Lysosomal Storage Diseases
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Lysosomal Storage Diseases
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems.
Lysosomal Storage Diseases
Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris.
Lysosomal Storage Diseases
Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression.
Lysosomal Storage Diseases
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Lysosomal Storage Diseases
The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A.
Lysosomal Storage Diseases
Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts.
Lysosomal Storage Diseases
Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome.
Lysosomal Storage Diseases
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Lysosomal Storage Diseases
[Morquio A disease: clinical and molecular study of Tunisian patients].
Lysosomal Storage Diseases
[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
Metabolic Diseases
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
Mucopolysaccharidoses
A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.
Mucopolysaccharidoses
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Mucopolysaccharidoses
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
Mucopolysaccharidoses
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
Mucopolysaccharidoses
A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report.
Mucopolysaccharidoses
Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.
Mucopolysaccharidoses
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Mucopolysaccharidoses
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Mucopolysaccharidoses
Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.
Mucopolysaccharidoses
Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations.
Mucopolysaccharidoses
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidoses
Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment.
Mucopolysaccharidoses
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
Mucopolysaccharidoses
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.
Mucopolysaccharidoses
Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation.
Mucopolysaccharidoses
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.
Mucopolysaccharidoses
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Mucopolysaccharidoses
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
Mucopolysaccharidoses
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA.
Mucopolysaccharidoses
Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses.
Mucopolysaccharidoses
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Mucopolysaccharidoses
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.
Mucopolysaccharidoses
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidoses
Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model.
Mucopolysaccharidoses
Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
Mucopolysaccharidoses
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
Mucopolysaccharidoses
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
Mucopolysaccharidoses
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.
Mucopolysaccharidoses
Distinct Effects of N-Acetylgalactosamine-4-sulfatase and Galactose-6-sulfatase Expression on Chondroitin Sulfates.
Mucopolysaccharidoses
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidoses
Elosulfase Alfa: a review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidoses
Enhancement of Drug Delivery: Enzyme-replacement Therapy for Murine Morquio A Syndrome.
Mucopolysaccharidoses
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice.
Mucopolysaccharidoses
Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21.
Mucopolysaccharidoses
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Mucopolysaccharidoses
Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts.
Mucopolysaccharidoses
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI.
Mucopolysaccharidoses
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Mucopolysaccharidoses
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Mucopolysaccharidoses
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report.
Mucopolysaccharidoses
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Mucopolysaccharidoses
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Mucopolysaccharidoses
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.
Mucopolysaccharidoses
Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.
Mucopolysaccharidoses
Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches.
Mucopolysaccharidoses
In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Mucopolysaccharidoses
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.
Mucopolysaccharidoses
Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.
Mucopolysaccharidoses
Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID.
Mucopolysaccharidoses
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
Mucopolysaccharidoses
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
Mucopolysaccharidoses
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Mucopolysaccharidoses
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
Mucopolysaccharidoses
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
Mucopolysaccharidoses
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Mucopolysaccharidoses
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Mucopolysaccharidoses
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidoses
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Mucopolysaccharidoses
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
Mucopolysaccharidoses
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Mucopolysaccharidoses
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
Mucopolysaccharidoses
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Mucopolysaccharidoses
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Mucopolysaccharidoses
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
Mucopolysaccharidoses
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
Mucopolysaccharidoses
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.
Mucopolysaccharidoses
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidoses
Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
Mucopolysaccharidoses
Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.
Mucopolysaccharidoses
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.
Mucopolysaccharidoses
Pathogenesis of Morquio A syndrome: an autopsied case reveals systemic storage disorder.
Mucopolysaccharidoses
Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.
Mucopolysaccharidoses
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems.
Mucopolysaccharidoses
Proximal realignment surgery for unilateral chronic patella dislocation in Morquio syndrome: a case report.
Mucopolysaccharidoses
Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders.
Mucopolysaccharidoses
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Mucopolysaccharidoses
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mucopolysaccharidoses
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis IVA.
Mucopolysaccharidoses
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
Mucopolysaccharidoses
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Mucopolysaccharidoses
Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts.
Mucopolysaccharidoses
Validation of an LC-MS/MS assay for detecting relevant disaccharides from keratan sulfate as a biomarker for Morquio A syndrome.
Mucopolysaccharidoses
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.
Mucopolysaccharidoses
[Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].
Mucopolysaccharidoses
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Mucopolysaccharidoses
[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients]
Mucopolysaccharidoses
[Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].
Mucopolysaccharidoses
[Morquio A disease: clinical and molecular study of Tunisian patients].
Mucopolysaccharidoses
[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
Mucopolysaccharidoses
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]
Mucopolysaccharidosis I
Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders.
Mucopolysaccharidosis III
Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.
Mucopolysaccharidosis III
Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics.
Mucopolysaccharidosis III
Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID.
Mucopolysaccharidosis IV
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Mucopolysaccharidosis IV
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Activities of N-acetylgalactosamine-6-sulfate sulfatase in liver from two sisters with morquio syndrome.
Mucopolysaccharidosis IV
Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
Mucopolysaccharidosis IV
Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
Mucopolysaccharidosis IV
Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.
Mucopolysaccharidosis IV
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Mucopolysaccharidosis IV
Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.
Mucopolysaccharidosis IV
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IV
Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment.
Mucopolysaccharidosis IV
Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
Mucopolysaccharidosis IV
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.
Mucopolysaccharidosis IV
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
Mucopolysaccharidosis IV
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Mucopolysaccharidosis IV
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
Mucopolysaccharidosis IV
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.
Mucopolysaccharidosis IV
Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.
Mucopolysaccharidosis IV
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IV
Development of Substrate Degradation Enzyme Therapy for Mucopolysaccharidosis IVA Murine Model.
Mucopolysaccharidosis IV
Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
Mucopolysaccharidosis IV
Diagnosis of classical Morquio's disease: N-acetylgalactosamine 6-sulphate sulphatase activity in cultured fibroblasts, leukocytes, amniotic cells and chorionic villi.
Mucopolysaccharidosis IV
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
Mucopolysaccharidosis IV
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IV
Elosulfase Alfa: a review of its use in patients with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidosis IV
Enzyme replacement in a human model of mucopolysaccharidosis IVA in vitro and its biodistribution in the cartilage of wild type mice.
Mucopolysaccharidosis IV
Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?
Mucopolysaccharidosis IV
Enzyme replacement therapy in a murine model of Morquio A syndrome.
Mucopolysaccharidosis IV
Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions?
Mucopolysaccharidosis IV
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes.
Mucopolysaccharidosis IV
Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts.
Mucopolysaccharidosis IV
Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.
Mucopolysaccharidosis IV
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.
Mucopolysaccharidosis IV
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
Mucopolysaccharidosis IV
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Mucopolysaccharidosis IV
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene.
Mucopolysaccharidosis IV
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
Mucopolysaccharidosis IV
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report.
Mucopolysaccharidosis IV
Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
Mucopolysaccharidosis IV
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
Mucopolysaccharidosis IV
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.
Mucopolysaccharidosis IV
Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.
Mucopolysaccharidosis IV
Intellectual and neurological functioning in Morquio syndrome (MPS IVa).
Mucopolysaccharidosis IV
Lessons learned from surgical management of craniovertebral instability in Morquio syndrome: A series of four unusual cases.
Mucopolysaccharidosis IV
Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.
Mucopolysaccharidosis IV
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Mucopolysaccharidosis IV
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
Mucopolysaccharidosis IV
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses.
Mucopolysaccharidosis IV
Molecular genetic assay of mucopolysaccharidosis IVA in South China.
Mucopolysaccharidosis IV
Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
Mucopolysaccharidosis IV
Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16.
Mucopolysaccharidosis IV
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IV
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.
Mucopolysaccharidosis IV
Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.
Mucopolysaccharidosis IV
Morquio's disease type A: absence of material cross reacting with antibodies against N-acetylgalactosamine-6-sulfate sulfatase.
Mucopolysaccharidosis IV
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
Mucopolysaccharidosis IV
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Mucopolysaccharidosis IV
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Mucopolysaccharidosis IV
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
Mucopolysaccharidosis IV
Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
Mucopolysaccharidosis IV
Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement.
Mucopolysaccharidosis IV
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
Mucopolysaccharidosis IV
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.
Mucopolysaccharidosis IV
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Mucopolysaccharidosis IV
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
Mucopolysaccharidosis IV
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
Mucopolysaccharidosis IV
N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.
Mucopolysaccharidosis IV
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Mucopolysaccharidosis IV
Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
Mucopolysaccharidosis IV
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy.
Mucopolysaccharidosis IV
Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease.
Mucopolysaccharidosis IV
Porcine N-acetylgalactosamine 6-sulfatase (GALNS) cDNA sequence and expression in developing teeth.
Mucopolysaccharidosis IV
Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples.
Mucopolysaccharidosis IV
Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems.
Mucopolysaccharidosis IV
Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris.
Mucopolysaccharidosis IV
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
Mucopolysaccharidosis IV
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Mucopolysaccharidosis IV
The effects of acid glycosaminoglycans on neonatal calvarian cultures--a role of keratan sulfate in Morquio syndrome?
Mucopolysaccharidosis IV
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.
Mucopolysaccharidosis IV
The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A.
Mucopolysaccharidosis IV
The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.
Mucopolysaccharidosis IV
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Mucopolysaccharidosis IV
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.
Mucopolysaccharidosis IV
[Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].
Mucopolysaccharidosis IV
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
Mucopolysaccharidosis IV
[Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients]
Mucopolysaccharidosis IV
[Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A].
Mucopolysaccharidosis IV
[Morquio A disease: clinical and molecular study of Tunisian patients].
Mucopolysaccharidosis IV
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]
Mucopolysaccharidosis IV
[RFLP of a StuI site in the GALNS gene in Morquio Syndrome of Guangdong national minority population]
Mucopolysaccharidosis VI
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
n-acetylgalactosamine-6-sulfatase deficiency
Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report.
n-acetylgalactosamine-6-sulfatase deficiency
Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
n-acetylgalactosamine-6-sulfatase deficiency
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.
n-acetylgalactosamine-6-sulfatase deficiency
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
n-acetylgalactosamine-6-sulfatase deficiency
Enzyme Replacement Therapies and Immunogenicity in Lysosomal Storage Diseases: Is There a Pattern?
n-acetylgalactosamine-6-sulfatase deficiency
Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts.
n-acetylgalactosamine-6-sulfatase deficiency
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
n-acetylgalactosamine-6-sulfatase deficiency
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report.
n-acetylgalactosamine-6-sulfatase deficiency
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
n-acetylgalactosamine-6-sulfatase deficiency
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
n-acetylgalactosamine-6-sulfatase deficiency
Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
n-acetylgalactosamine-6-sulfatase deficiency
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
n-acetylgalactosamine-6-sulfatase deficiency
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.
Neoplasm Metastasis
Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation.
Neoplasms
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Osteoarthritis
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients.
Osteochondrodysplasias
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
Periodontal Diseases
Elaboration of hyaluronidase and chondroitin sulfatase by microorganisms inhabiting the gingival sulcus: evaluation of a screening method for periodontal disease.
Pneumonia
N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies.
Prostatic Neoplasms
Chondroitin sulfatases differentially regulate Wnt signaling in prostate stem cells through effects on SHP2, phospho-ERK1/2, and Dickkopf Wnt signaling pathway inhibitor (DKK3).
Pulmonary Disease, Chronic Obstructive
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
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