Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B
about
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctataRegulation of lysosomal ion homeostasis by channels and transportersTwo site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinSegregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctataMucopolysaccharidosis VI.Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) GeneMucopolysaccharidosis 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.Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsMucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.Mucopolysaccharidosis VI in cats - clarification regarding genetic testingDiagnostic and treatment strategies in mucopolysaccharidosis VI.Mutations in ARSB in MPS VI patients in India.Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.
P2860
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P2860
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B
description
1991 nî lūn-bûn
@nan
1991 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@ast
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en-gb
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@nl
type
label
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@ast
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en-gb
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@nl
prefLabel
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@ast
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en-gb
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@nl
P2093
P3181
P1476
Mucopolysaccharidosis VI (Maro ...... osition 137 of arylsulfatase B
@en
P2093
K von Figura
P304
P3181
P407
P577
1991-11-15T00:00:00Z