Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis

Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in the early neonatal period. We report a novel homo...

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Detalles Bibliográficos
Autores principales: Sakrani, Nida Fatima, Kul Hasan, Hala, Ibrahim, Ahmed, Al Jubeh, Jamal, Al Teneiji, Amal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498454/
https://www.ncbi.nlm.nih.gov/pubmed/34646737
http://dx.doi.org/10.1016/j.ymgmr.2021.100806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8498454/
https://www.ncbi.nlm.nih.gov/pubmed/34646737
http://dx.doi.org/10.1016/j.ymgmr.2021.100806

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