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

BACKGROUND: Acute intermittent porphyria (AIP) is caused by a partial deficiency of hydroxymethylbilane synthase and affects heme biosynthesis. Mutations in the HMBS gene result in HMBS deficiency. AIP is a rare disease, and there been insufficient studies on it. This report describes the molecular...

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Detalles Bibliográficos
Autores principales:	Li, Shuang, Lei, Jia-Jia, Dong, Bai-Xue, Ren, Yi, Yang, Jing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2023
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545320/ https://www.ncbi.nlm.nih.gov/pubmed/37773850 http://dx.doi.org/10.1097/MD.0000000000035144

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