Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD). This deficiency causes hyperammonemia, hepatopathy and neurodevelopmental delay in pati...

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Detalles Bibliográficos
Autores principales: Ali, Ernie Zuraida, Yakob, Yusnita, Ngu, Lock Hock
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831900/
https://www.ncbi.nlm.nih.gov/pubmed/31709144
http://dx.doi.org/10.1016/j.ymgmr.2019.100525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831900/
https://www.ncbi.nlm.nih.gov/pubmed/31709144
http://dx.doi.org/10.1016/j.ymgmr.2019.100525

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