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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) <i>HMBS</i> variant heterozygosity is unknown. This study estimates all-cause mortality in pedigrees with <i>HMBS</i> gene varian...

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Autori principali: Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2022-12-01
Serie:Life
Soggetti:
acute intermittent porphyria
acute hepatic porphyria
hydroxymethylbilane synthase
standardized mortality ratio
Accesso online:https://www.mdpi.com/2075-1729/12/12/2059
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