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Peripheral neural response and sex hormones in type 1 Gaucher disease
BACKGROUND: In a rare Gaucher disease, reduced activity of lysosomal b-glucocerebrosidase incompletely blocks glucosphingolipid catabolism. Accumulation of the unhydrolyzed substrate glucosylceramide within lysosomes results in progressive, multisystem Gaucher disease, classified into three types. B...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society of Medical Biochemists of Serbia, Belgrade
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282237/ https://www.ncbi.nlm.nih.gov/pubmed/32549779 http://dx.doi.org/10.2478/jomb-2019-0020 |