A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria

Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghosh, Ritwik, León-Ruiz, Moisés, Singh Sardar, Sona, Naga, Dinobandhu, Roy, Dipayan, Ghosh, Tapas, Dubey, Souvik, Benito-León, Julián
Formato: Online Artículo Texto
Lenguaje:English
Publicado: HBKU Press 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577391/
https://www.ncbi.nlm.nih.gov/pubmed/36304064
http://dx.doi.org/10.5339/qmj.2022.46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577391/
https://www.ncbi.nlm.nih.gov/pubmed/36304064
http://dx.doi.org/10.5339/qmj.2022.46

Ejemplares similares