HMBS gene mutations and hydroxymethylbilane synthase activity in acute intermittent porphyria: A systematic review.

Li, Shuang; Lei, Jia-Jia; Dong, Bai-Xue; Ren, Yi; Yang, Jing

Li, Shuang; Lei, Jia-Jia; Dong, Bai-Xue; Ren, Yi; Yang, Jing.

Afiliación

Li S; Department of the First Clinical Medical School, Shanxi Medical University, Taiyuan, China.
Lei JJ; Department of the First Clinical Medical School, Shanxi Medical University, Taiyuan, China.
Dong BX; Department of the First Clinical Medical School, Shanxi Medical University, Taiyuan, China.
Ren Y; Department of Endocrinology, The First Hospital of Shanxi Medical University, Taiyuan, China.
Yang J; Department of Endocrinology, The First Hospital of Shanxi Medical University, Taiyuan, China.

Medicine (Baltimore) ; 102(39): e35144, 2023 Sep 29.

Article en En | MEDLINE | ID: mdl-37773850

Asunto(s)

Porfiria Intermitente Aguda; Humanos; Porfiria Intermitente Aguda/genética; Porfiria Intermitente Aguda/diagnóstico; Hidroximetilbilano Sintasa/genética; Mutación; Mutación Missense

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Porfiria Intermitente Aguda Tipo de estudio: Diagnostic_studies / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Medicine (Baltimore) Año: 2023 Tipo del documento: Article País de afiliación: China

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google