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Article

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Orphanet journal of rare diseases - 4 Aug 2023

Chan Mei-Yan, Jalil Julaina Abdul, Yakob Yusnita, Wahab Siti Aishah Abdul, Ali Ernie Zuraida, Khalid Mohd Khairul Nizam Mohd, Leong Huey-Yin, Chew Hui-Bein, Sivabalakrishnan Jeya Bawani, Ngu Lock-Hock

Abstract excerpt

BACKGROUND: Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present within the first year of life with profound hypotonia and hypertrophic cardiomyopathy. Treatment with enzyme replacement therapy (ERT) has significantly improved survival...

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Identifiers

PMID: 37542277
DOI: 10.1186/s13023-023-02848-6
PMCID: PMC10403872

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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