Search results for "Maroteaux–Lamy syndrome"

showing 3 items of 3 documents

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

2017

Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naive MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (>200μg/mg creatinine) levels identified …

0301 basic medicineArylsulfatase BMaleLysosomal storage disorderN-Acetylgalactosamine-4-SulfataseEndocrinology Diabetes and MetabolismMucopolysaccharidosisGrowthBiochemistryGastroenterologychemistry.chemical_compoundEndocrinologyChildMucopolysaccharidosis VIAge FactorsMucopolysaccharidosis VIEnzyme replacement therapyRecombinant ProteinsDiabetes and MetabolismEnzyme replacement therapy; Galsulfase; Growth; Height; Lysosomal storage disorder; Maroteaux-Lamy syndrome; Mucopolysaccharidosis; Mucopolysaccharidosis VI; Endocrinology Diabetes and Metabolism; Biochemistry; Molecular Biology; Genetics; EndocrinologyChild PreschoolFemalemedicine.symptommedicine.medical_specialtyAdolescentUrinary systemShort stature03 medical and health sciencesGalsulfaseInternal medicineGeneticsmedicineHumansEnzyme Replacement TherapyMolecular BiologyCreatinineHeightbusiness.industryInfant NewbornInfantmedicine.diseaseBody HeightMucopolysaccharidosisMaroteaux–Lamy syndrome030104 developmental biologychemistryImmunologyMaroteaux-Lamy syndromebusinessFollow-Up StudiesMolecular genetics and metabolism
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Mutational analysis of 105 mucopolysaccharidosis type VI patients

2007

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans (GAG) dermatan and chondroitin sulfate. ARSB mutations reduce enzyme function and GAG degradation, causing lysosomal storage and urinary excretion of these partially degraded substrates. Disease onset and rate of progression is variable, producing a spectrum of clinical presentation. In this study, 105 MPS VI patients—representing about 10% of the world MPS VI population—were studied for molecular genetic and biochemical parame…

AdultArylsulfatase BAdolescentN-Acetylgalactosamine-4-SulfataseMPS VIDNA Mutational AnalysisNonsense mutationMucopolysaccharidosis type VIBiologyPolymorphism Single NucleotideGenetic HeterogeneityAge DistributionGene FrequencyGenotypeGeneticsmedicineHumansMissense mutationGenetic TestingChildCells CulturedGenetics (clinical)mucopolysaccharidosis type VIGlycosaminoglycansGeneticsMucopolysaccharidosis VIGenetic heterogeneityMucopolysaccharidosis VIMiddle Agedmedicine.diseasearylsulfatase BMaroteaux–Lamy syndromeDisease ProgressionARSBMaroteaux-LamyHuman Mutation
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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical …

2008

Abstract The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. Fifty-six patients derived from 3 clinical studies were followed in open-label extension studies for a total period of 97–260 Weeks. All patients received weekly infusions of rhASB at 1mg/kg. Efficacy was evaluated by (1) distance walked in a 12-minute walk test (12MWT) or 6-minute walk test (6MWT), (2) stairs climbed in the 3-minute stair climb (3MSC), and (3) reduction in urinary glycosaminoglycans (GAG). Safety was evaluated by compliance, adve…

AdultMaleArylsulfatase Bmedicine.medical_specialtyAdolescentN-Acetylgalactosamine-4-SulfataseEndocrinology Diabetes and MetabolismMucopolysaccharidosis type VIWalkingMotor ActivityPlaceboBiochemistryEndocrinologyInternal medicineGeneticsmedicineHumansChildAdverse effectMolecular BiologyGlycosaminoglycansMucopolysaccharidosis VIbusiness.industryMucopolysaccharidosis VIEnzyme replacement therapymedicine.diseaseRecombinant ProteinsSurgeryClinical trialMaroteaux–Lamy syndromeTreatment OutcomeChild PreschoolFemalebusinessFollow-Up StudiesMolecular Genetics and Metabolism
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