Galactosialidosis: review and analysis of CTSA gene mutations

BACKGROUND: Mutations in the CTSA gene, that encodes the protective protein/cathepsin A or PPCA, lead to the secondary deficiency of β-galactosidase (GLB1) and neuraminidase 1 (NEU1), causing the lysosomal storage disorder galactosialidosis (GS). Few clinical cases of GS have been reported in the li...

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Détails bibliographiques
Auteurs principaux: Caciotti, Anna, Catarzi, Serena, Tonin, Rodolfo, Lugli, Licia, Perez, Carmen Rodriguez, Michelakakis, Helen, Mavridou, Irene, Donati, Maria Alice, Guerrini, Renzo, d’Azzo, Alessandra, Morrone, Amelia
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Research
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3737020/
https://ncbi.nlm.nih.gov/pubmed/23915561
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-114
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