International Journal of Neonatal ScreeningMetachromatic leukodystrophy (MLD) is a rare inherited disorder of lysosomal storage, caused by a deficiency in the arylsulfatase A (ARSA) enzyme, leading to toxic accumulation of sulfatides, which progressively impair motor and cognitive function.
Sabrina Malvagia +21 more
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Mucopoly saccharidosis type maroteaux-lamy, a case report [PDF]
Journal of Mazandaran University of Medical Sciences, 2007 Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine--4-sulfate sulfatase (arylsulfatase B).
A.R. Alaee +3 more
doaj
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI [PDF]
, 2012 Seiji Saito +4 more
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Recognition of Arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal Enzyme N-Acetylglucosamine-phosphotransferase [PDF]
, 2003 Afshin Yaghootfam +3 more
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Arylsulfatase I is a prognostic biomarker for head and neck squamous cell carcinoma and Pan‐cancer
, 2022 Yiming Shen +8 more
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Effect of Pseudomonas Fluorescens on Isofetamid Dissipation and Soil Microbial Activity
Applied SciencesThe aim of this study was to assess the effect of Pseudomonas fluorescens (P) application on isofetamid (IS) dissipation; the number of specific genes of archaea, bacteria and ammonia-oxidizing bacteria (AOB); and the activity of β-Glucosidase ...
Urszula Wydro +6 more
doaj +1 more source
Promiscuous Arylsulfatase Activity in Chlamydomonas reinhardtii
, 2022 Münevver Aksoy
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A study on enzyme activities of some sphingolipidoses
The Turkish Journal of Pediatrics, 1994 Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara +4 more
doaj
A systematic review on the birth prevalence of metachromatic leukodystrophy
Orphanet Journal of Rare DiseasesBackground Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes
Shun-Chiao Chang +4 more
doaj +1 more source
Phenylboronic acids as pH-selective ligands for arylsulfatase B: a lead for pharmacological chaperones against Maroteaux–Lamy syndrome [PDF]
Fumika Karaki +6 more
openalex +1 more source