## Communicated by William Sly Argininosuccinic aciduria (ASAuria) is an inborn error of metabolism caused by mutations in the argininosuccinate lyase (ASL) gene, which leads to the accumulation of argininosuccinic acid (ASA) in body fluids and severe hyperammonemia. A severe neonatal form and a mi
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
โ Scribed by Linnebank, Michael; Tschiedel, Eva; Häberle, Johannes; Linnebank, Anja; Willenbring, Holger; Kleijer, Wim; Koch, Hans
- Book ID
- 113043545
- Publisher
- Springer
- Year
- 2002
- Tongue
- English
- Weight
- 201 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0340-6717
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