Acute intermittent porphyria: a test of clinical acumen

Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors. However, gene defect alone is usually not sufficient to cause an acute...

Descripción completa

Detalles Bibliográficos
Autores principales: Dhital, Rashmi, Basnet, Sijan, Poudel, Dilli Ram, Bhusal, Khema Raj
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473191/
https://www.ncbi.nlm.nih.gov/pubmed/28638573
http://dx.doi.org/10.1080/20009666.2017.1317535

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473191/
https://www.ncbi.nlm.nih.gov/pubmed/28638573
http://dx.doi.org/10.1080/20009666.2017.1317535

Ejemplares similares