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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Detalles Bibliográficos
Autores principales: Yang, Yang, Chen, Xiyun, Wu, Huijuan, Peng, Hua, Sun, Wenjing, He, Bin, Yuan, Zhengang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248523/
https://www.ncbi.nlm.nih.gov/pubmed/32377710
http://dx.doi.org/10.3892/mmr.2020.11117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248523/
https://www.ncbi.nlm.nih.gov/pubmed/32377710
http://dx.doi.org/10.3892/mmr.2020.11117

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