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A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome

Acute intermittent porphyria (AIP) is a rare inherited disorder, which is caused by the partial deficiency of hydroxymethylbilane synthase (HMBS), an enzyme of the heme biosynthetic pathway. Abdominal pain, neuropsychiatric disturbance and neuropathy are the typical manifestations of the disease. Co...

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Bibliografiske detaljer
Udgivet i:Mol Med Rep
Main Authors: Yang, Yang, Chen, Xiyun, Wu, Huijuan, Peng, Hua, Sun, Wenjing, He, Bin, Yuan, Zhengang
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7248523/
https://ncbi.nlm.nih.gov/pubmed/32377710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11117
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