Associated Papers
Phenotypic variation between siblings with Metachromatic Leukodystrophy.
Elgün S et al.
Orphanet Journal of Rare Diseases, 2019
Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
Aslan M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Cesani M et al.
Human Mutation, 2016
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