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

Abstract 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 hypot...

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Hlavní autoři:	Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2023-08-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Acid alpha-glucosidase Enzyme replacement therapy GAA Infantile-onset Pompe disease Lysosomal storage disease
On-line přístup:	https://doi.org/10.1186/s13023-023-02848-6
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