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...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha: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
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