scholarly article | Q13442814 |
P2093 | author name string | von Figura K | |
Peters C | |||
Hopwood JJ | |||
Brooks DA | |||
Arlt G | |||
Isbrandt D | |||
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Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B | Q24338264 | ||
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An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype | Q67482106 | ||
Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase | Q68354874 | ||
Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome | Q68364181 | ||
The sulphatase of ox liver. XI. The isoelectric focussing of a purified preparation of sulphatase B | Q72147850 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | mucopolysaccharidosis VI | Q576109 |
P304 | page(s) | 454-463 | |
P577 | publication date | 1994-03-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes | |
P478 | volume | 54 |
Q37357839 | Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy |
Q26830003 | Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature |
Q47990521 | Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series |
Q50289077 | Defective ARSB does not hydrolyse C4S/C6S chains |
Q55214592 | Defective ARSB does not hydrolyse DS |
Q36253221 | Diagnostic and treatment strategies in mucopolysaccharidosis VI. |
Q43071668 | Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis |
Q41483103 | Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). |
Q37154973 | Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome |
Q36777136 | Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity |
Q35882767 | Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients |
Q36791739 | Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice |
Q28295485 | Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells |
Q34422329 | Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene |
Q36521405 | Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome). |
Q33863356 | Mucopolysaccharidosis VI. |
Q54620854 | Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. |
Q45909286 | Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. |
Q35199296 | Prevalence 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. |
Q28585358 | Role of LAMP-2 in lysosome biogenesis and autophagy |
Q40735691 | Role of cathepsin B in intracellular trypsinogen activation and the onset of acute pancreatitis |
Q37396626 | Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI |
Q30418311 | Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein |