Article
Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.
Molecular genetics and metabolism - 1 May 2015
Lorioli L, Cicalese M P, Silvani P, Assanelli A, Salvo I, Mandelli A, Fumagalli F, Fiori R, Ciceri F, Aiuti A, Sessa M, Roncarolo M G, Lanzani C, Biffi A
Abstract excerpt
Metachromatic Leukodystrophy (MLD; MIM# 250100) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The enzymatic defect results in the accumulation of the ARSA substrate that is particularly relevant in myelin forming cells and leads to progressive...
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