Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I

In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the argininosuccinate synthetase 1 (ASS1) gene. However,...

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Detalles Bibliográficos
Autores principales: Pontrucher, Audrey, Barth, Magalie, Ziegler, Alban, Chao de la Barca, Juan Manuel, Mirebeau-Prunier, Delphine, Reynier, Pascal, Homedan, Chadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665474/
https://www.ncbi.nlm.nih.gov/pubmed/38020658
http://dx.doi.org/10.3389/fneur.2023.1266686

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10665474/
https://www.ncbi.nlm.nih.gov/pubmed/38020658
http://dx.doi.org/10.3389/fneur.2023.1266686

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