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Article

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy.

Journal of child neurology - 1 Mar 2012

Cho Anna, Kim Su Jin, Lim Byung Chan, Hwang Hee, Park June Dong, Kim Gi Beom, Jin Dong-Kyu, Lee Jeehun, Ki Chang Seok, Kim Ki Joong, Hwang Yong Seung, Chae Jong-Hee

Abstract excerpt

Pompe disease is an autosomal recessive disorder caused by lysosomal acid α-glucosidase deficiency. Infantile-onset Pompe disease presents with cardiomyopathy and hypotonia, leading to premature death. This article describes 7 infantile Pompe disease cases and provides their molecular bases and clinical outcomes after enzyme replacement therapy for the first time in Korea. Molecular genetic analyses revealed the...

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PMID: 21940687
DOI: 10.1177/0883073811420295

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

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