Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

BACKGROUND: Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA; acid maltase), a key enzyme of the glycogen degradation pathway. To date, more...

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Detalhes bibliográficos
Main Authors: Sampaolo, Simone, Esposito, Teresa, Farina, Olimpia, Formicola, Daniela, Diodato, Daria, Gianfrancesco, Fernando, Cipullo, Federica, Cremone, Gaetana, Cirillo, Mario, Del Viscovo, Luca, Toscano, Antonio, Angelini, Corrado, Di Iorio, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3851825/
https://ncbi.nlm.nih.gov/pubmed/24107549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-159
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