Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Cullufi, P., Tabaku, M., Beetz, C., Tomori, S., Velmishi, V., Gjikopulli, A., Bauer, P., Wirth, S., Rolfs, A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6831897/
https://ncbi.nlm.nih.gov/pubmed/31709146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100532
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