Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Hyperammonemia due to carbonic anhydrase VA deficiency (OMIM# 615751) is a rare, life-threatening hereditary disease caused by biallelic mutations in the CA5A gene, presenting as encephalopathic hyperammonemia of unexplained origin during the neonatal period and infancy. Here, we present a detailed...

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Detalles Bibliográficos
Autores principales: Semenova, Natalia, Marakhonov, Andrey, Ampleeva, Maria, Kurkina, Marina, Baydakova, Galina, Skoblov, Mikhail, Taran, Natalia, Babak, Olga, Shchukina, Ekaterina, Strokova, Tatyana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9739189/
https://www.ncbi.nlm.nih.gov/pubmed/36499355
http://dx.doi.org/10.3390/ijms232315026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9739189/
https://www.ncbi.nlm.nih.gov/pubmed/36499355
http://dx.doi.org/10.3390/ijms232315026

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