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Disease on EC 3.1.6.4 - N-acetylgalactosamine-6-sulfatase

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