Mortality in Pedigrees with Acute Intermittent Porphyria

High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in pedigrees with HMBS gene variants that cause...

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Detalles Bibliográficos
Autores principales: Neeleman, Rochus, Musters, Kyra, Wagenmakers, Margreet, Mijnhout, Sophie, Friesema, Edith, Sijbrands, Eric, Langendonk, Janneke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9785653/
https://www.ncbi.nlm.nih.gov/pubmed/36556425
http://dx.doi.org/10.3390/life12122059

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