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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...

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Detalhes bibliográficos
Publicado no:J Community Hosp Intern Med Perspect
Main Authors: Dhital, Rashmi, Basnet, Sijan, Poudel, Dilli Ram, Bhusal, Khema Raj
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473191/
https://ncbi.nlm.nih.gov/pubmed/28638573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/20009666.2017.1317535
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