Phenotypic variation between siblings with Metachromatic Leukodystrophy

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 partly understood, and the variability of the...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Elgün, Saskia, Waibel, Jakob, Kehrer, Christiane, van Rappard, Diane, Böhringer, Judith, Beck-Wödl, Stefanie, Just, Jennifer, Schöls, Ludger, Wolf, Nicole, Krägeloh-Mann, Ingeborg, Groeschel, Samuel
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2019
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6560893/
https://ncbi.nlm.nih.gov/pubmed/31186049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1113-6
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires