A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report

RATIONALE: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. PATIENT CONCERNS: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperb...

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Detalles Bibliográficos
Autores principales: Ren, Yi, Xu, Lin-Xin, Liu, Yun-Feng, Xiang, Chen-Yu, Gao, Fei, Wang, Yan, Bai, Tao, Yin, Jian-Hong, Zhao, Yang-Lu, Yang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156069/
https://www.ncbi.nlm.nih.gov/pubmed/30212967
http://dx.doi.org/10.1097/MD.0000000000012295

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