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Infantile hypotonia with failure to thrive

BACKGROUND: Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multi...

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Autori principali: Nagiub, Mohamed, Alton, Karen, Anne, Premchand
Natura: Artigo
Lingua:Inglês
Pubblicazione: International Scientific Literature, Inc. 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3615929/
https://ncbi.nlm.nih.gov/pubmed/23569532
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.883367
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