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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403872/
https://www.ncbi.nlm.nih.gov/pubmed/37542277
http://dx.doi.org/10.1186/s13023-023-02848-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403872/
https://www.ncbi.nlm.nih.gov/pubmed/37542277
http://dx.doi.org/10.1186/s13023-023-02848-6

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