Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia
Abstract Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic neuro‐cognitive or psychiatric prese...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Wiley
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/752650dca1c245a684f60b906448d54f |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|