Disease on EC 3.1.6.12 - N-acetylgalactosamine-4-sulfatase
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arylsulfatase (type i) deficiency
Multiple sulfatase deficiency with a novel biochemical presentation.
Carcinoma, Hepatocellular
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.
Dentigerous Cyst
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI).
Dysostoses
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Hypersensitivity
Immune response to enzyme replacement therapy: clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model.
Leukodystrophy, Metachromatic
Multiple sulfatase deficiency with a novel biochemical presentation.
Lysosomal Storage Diseases
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Lysosomal Storage Diseases
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Lysosomal Storage Diseases
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Lysosomal Storage Diseases
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Lysosomal Storage Diseases
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Lysosomal Storage Diseases
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
Lysosomal Storage Diseases
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Lysosomal Storage Diseases
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Lysosomal Storage Diseases
Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations.
Lysosomal Storage Diseases
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
Lysosomal Storage Diseases
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Lysosomal Storage Diseases
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Meningitis
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Mucopolysaccharidoses
Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease.
Mucopolysaccharidoses
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.
Mucopolysaccharidoses
Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidoses
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Mucopolysaccharidoses
ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
Mucopolysaccharidoses
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidoses
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
Mucopolysaccharidoses
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Mucopolysaccharidoses
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.
Mucopolysaccharidoses
Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidoses
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
Mucopolysaccharidoses
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study.
Mucopolysaccharidoses
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.
Mucopolysaccharidoses
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.
Mucopolysaccharidoses
Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease.
Mucopolysaccharidoses
Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene.
Mucopolysaccharidoses
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB.
Mucopolysaccharidoses
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Mucopolysaccharidoses
Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.
Mucopolysaccharidoses
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidoses
Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype.
Mucopolysaccharidoses
Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
Mucopolysaccharidoses
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
Mucopolysaccharidoses
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
Mucopolysaccharidoses
Improved Reagents for Newborn Screening of Mucopolysaccharidosis-I, II and VI by Tandem Mass Spectrometry.
Mucopolysaccharidoses
Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats.
Mucopolysaccharidoses
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series.
Mucopolysaccharidoses
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): A single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.
Mucopolysaccharidoses
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.
Mucopolysaccharidoses
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Mucopolysaccharidoses
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Mucopolysaccharidoses
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidoses
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Mucopolysaccharidoses
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Mucopolysaccharidoses
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
Mucopolysaccharidoses
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Mucopolysaccharidoses
Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts.
Mucopolysaccharidoses
Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.
Mucopolysaccharidoses
Receptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidoses
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Mucopolysaccharidoses
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells.
Mucopolysaccharidoses
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
Mucopolysaccharidoses
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidoses
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidoses
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Mucopolysaccharidoses
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
Mucopolysaccharidoses
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.
Mucopolysaccharidosis III
Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat.
Mucopolysaccharidosis VI
Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.
Mucopolysaccharidosis VI
Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum.
Mucopolysaccharidosis VI
An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype.
Mucopolysaccharidosis VI
Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients.
Mucopolysaccharidosis VI
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells.
Mucopolysaccharidosis VI
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
Mucopolysaccharidosis VI
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.
Mucopolysaccharidosis VI
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Mucopolysaccharidosis VI
Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.
Mucopolysaccharidosis VI
Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.
Mucopolysaccharidosis VI
Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age-a sibling control study.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Mucopolysaccharidosis VI
Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.
Mucopolysaccharidosis VI
Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease.
Mucopolysaccharidosis VI
Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene.
Mucopolysaccharidosis VI
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Mucopolysaccharidosis VI
Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts.
Mucopolysaccharidosis VI
Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.
Mucopolysaccharidosis VI
Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype.
Mucopolysaccharidosis VI
Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.
Mucopolysaccharidosis VI
Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.
Mucopolysaccharidosis VI
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mucopolysaccharidosis VI
Immunochemical characterization of feline and human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
Mucopolysaccharidosis VI
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Mucopolysaccharidosis VI
Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats.
Mucopolysaccharidosis VI
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.
Mucopolysaccharidosis VI
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): A single dose of galsulfase further reduces urine glycosaminoglycans after hematopoietic stem cell transplantation.
Mucopolysaccharidosis VI
Maroteaux-lamy syndrome: five novel mutations and their structural localization.
Mucopolysaccharidosis VI
Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.
Mucopolysaccharidosis VI
Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.
Mucopolysaccharidosis VI
Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
Mucopolysaccharidosis VI
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
Mucopolysaccharidosis VI
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Mucopolysaccharidosis VI
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
Mucopolysaccharidosis VI
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.
Mucopolysaccharidosis VI
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
Mucopolysaccharidosis VI
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.
Mucopolysaccharidosis VI
Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
Mucopolysaccharidosis VI
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI).
Mucopolysaccharidosis VI
Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts.
Mucopolysaccharidosis VI
Pharmacodynamics, pharmacokinetics and biodistribution of recombinant human N-acetylgalactosamine 4-sulfatase after 6months of therapy in cats using different IV infusion durations.
Mucopolysaccharidosis VI
Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study.
Mucopolysaccharidosis VI
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI.
Mucopolysaccharidosis VI
Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.
Mucopolysaccharidosis VI
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Mucopolysaccharidosis VI
Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells.
Mucopolysaccharidosis VI
Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen.
Mucopolysaccharidosis VI
Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.
Mucopolysaccharidosis VI
Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI.
Mucopolysaccharidosis VI
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome).
Mucopolysaccharidosis VI
The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia.
Mucopolysaccharidosis VI
The sulphatase of ox liver. XX. The preparation of sulphatases B1alpha and B1beta.
Mucopolysaccharidosis VI
Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
Mucopolysaccharidosis VI
Two novel mutations of the arylsulfatase B gene in two Italian patients with severe form of mucopolysaccharidosis. Mutations in brief no. 127. Online.
Mucopolysaccharidosis VI
Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein.
Multiple Sulfatase Deficiency Disease
Multiple sulfatase deficiency with a novel biochemical presentation.
n-acetylgalactosamine-4-sulfatase deficiency
Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase.
n-acetylgalactosamine-4-sulfatase deficiency
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.
Sarcoma, Avian
Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase.
Spinal Cord Compression
Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.
Spinal Cord Compression
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
Tuberculosis
Characterization of Rv0394c gene encoding hyaluronidase and chondrosulfatase from Mycobacterium tuberculosis.
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