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Article

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

Molecular genetics and metabolism - 1 Dec 2017

Mori Mari, Haskell Gloria, Kazi Zoheb, Zhu Xiaolin, DeArmey Stephanie M, Goldstein Jennifer L, Bali Deeksha, Rehder Catherine, Cirulli Elizabeth T, Kishnani Priya S

Abstract excerpt

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 replacement therapy hinges on early diagnosis, which is challenging in late-onset form of the disease due to non-specific...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29122469
DOI: 10.1016/j.ymgme.2017.10.008
PMCID: PMC5907499

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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