Genotype-phenotype correlation in Pompe disease, a step forward

BACKGROUND: Pompe’s disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family. METHODS: For a large series of GSDII patients we collec...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4249737/
https://ncbi.nlm.nih.gov/pubmed/25103075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0102-z
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