Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

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 presentation w...

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Detalles Bibliográficos
Autores principales: Leuger, Laurent, Dieu, Xavier, Chao de la Barca, Juan Manuel, Moriconi, Mikael, Halley, Guillaume, Donin de Rosière, Xavier, Reynier, Pascal, Mirebeau‐Prunier, Delphine, Homedan, Chadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574183/
https://www.ncbi.nlm.nih.gov/pubmed/34765397
http://dx.doi.org/10.1002/jmd2.12251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574183/
https://www.ncbi.nlm.nih.gov/pubmed/34765397
http://dx.doi.org/10.1002/jmd2.12251

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