Results 61 to 70 of about 11,658 (188)
Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? [PDF]
PLoS ONE, 2011 BACKGROUND: Metachromatic leukodystrophy (MLD) is a severe neurometabolic disease caused mainly by deficiency of arylsulfatase A encoded by the ARSA gene.
Agnieszka Ługowska +4 more
doaj +1 more source
Neurogenetics, 2020 Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA).
Shanice Beerepoot +7 more
semanticscholar +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro +2 more
wiley +1 more source
The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India
Annals of Indian Academy of Neurology, 2016 Objective: The objective of this study is to retrospectively collect and then describe the clinico-radiographical profile of confirmed cases of leukodystrophy who presented over a 5-year period to a tertiary care teaching hospital in North India ...
Sheffali Gulati +5 more
doaj +1 more source
Cells, 2020 (1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Sebastian G Strobel +6 more
semanticscholar +1 more source
Clinical and Translational Discovery, Volume 5, Issue 2, April 2025.
Alessandro Rossi +1 more
wiley +1 more source
Unifying biology of neurodegeneration in lysosomal storage diseases
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Anna M. Ludlaim +2 more
wiley +1 more source
Arylsulfatase A pseudodeficiency incidence in Turkey
The Turkish Journal of Pediatrics, 2000 Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele
S Emre, M Topçu, M Terzioğlu, Y Renda
doaj
Phenotypic variation between siblings with Metachromatic Leukodystrophy
Orphanet Journal of Rare Diseases, 2019 Background Metachromatic Leukodystrophy (MLD) is a rare autosomal-recessive lysosomal storage disorder caused by mutations in the ARSA gene. While interventional trials often use untreated siblings as controls, the genotype-phenotype correlation is only ...
Saskia Elgün +10 more
doaj +1 more source
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study
Annals of Clinical and Translational Neurology, 2020 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA), resulting in severe motor and cognitive dysfunction.
C. í Dali +8 more
semanticscholar +1 more source