Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
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Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literatureMice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cellsRole of LAMP-2 in lysosome biogenesis and autophagyTwo site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinMucopolysaccharidosis VI.Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) GenePrevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patientsDiagnostic and treatment strategies in mucopolysaccharidosis VI.Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient miceHaploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome.Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VIRole of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis.Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.Defective ARSB does not hydrolyse C4S/C6S chainsDefective ARSB does not hydrolyse DS
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P2860
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
description
1994 nî lūn-bûn
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1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@ast
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@en
type
label
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@ast
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@en
prefLabel
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@ast
Mucopolysaccharidosis VI (Maro ...... g variable disease phenotypes.
@en
P2093
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Mucopolysaccharidosis VI (Maro ...... ng variable disease phenotypes
@en
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1994-03-01T00:00:00Z