Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

Pompe disease (PD) is a recessive metabolic disorder characterized by acid α-glucosidase (GAA) deficiency, which results in lysosomal accumulation of glycogen in all tissues, especially in skeletal muscles. PD clinical course is mainly determined by the nature of the GAA mutations. Although ~400 dis...

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Auteurs principaux: Niño, Mónica Yasmín, Mateus, Heidi Eliana, Fonseca, Dora Janeth, Kroos, Marian A., Ospina, Sandra Yaneth, Mejía, Juan Fernando, Uribe, Jesús Alfredo, Reuser, Arnold J. J., Laissue, Paul
Format: Artigo
Langue:Inglês
Publié: Springer Berlin Heidelberg 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575054/
https://ncbi.nlm.nih.gov/pubmed/23430493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_138
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