Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

BACKGROUND: Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6...

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Detalles Bibliográficos
Autores principales: Abdul Wahab, Siti Aishah, Yakob, Yusnita, Mohd Khalid, Mohd Khairul Nizam, Ali, Noraishah, Leong, Huey Yin, Ngu, Lock Hock
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489408/
https://www.ncbi.nlm.nih.gov/pubmed/36160031
http://dx.doi.org/10.1155/2022/5870092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489408/
https://www.ncbi.nlm.nih.gov/pubmed/36160031
http://dx.doi.org/10.1155/2022/5870092

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