Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Pompe disease is a metabolic myopathy with a wide spectrum of clinical presentation. The gold-standard diagnostic test is acid alpha-glucosidase assay on skin fibroblasts, muscle or blood. Identification of two GAA pathogenic variants in-trans is confirmatory. Optimal effectiveness of enzyme replace...

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Publicado no:Mol Genet Metab
Main Authors: Mori, Mari, Haskell, Gloria, Kazi, Zoheb, Zhu, Xiaolin, DeArmey, Stephanie M., Goldstein, Jennifer L., Bali, Deeksha, Rehder, Catherine, Cirulli, Elizabeth T., Kishnani, Priya S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5907499/
https://ncbi.nlm.nih.gov/pubmed/29122469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.10.008
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