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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| 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 |