Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and acute neurological attacks. We report a 36‐ye...

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Detalles Bibliográficos
Autores principales: To‐Figueras, Jordi, Titos, Esther, Aguilera, Paula, Díaz, Alba, Muñoz‐Luque, Javier, Madrigal, Irene, Badenas, Celia, Torra, Mercè, Fondevila, Constantino, Colmenero, Jordi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830019/
https://www.ncbi.nlm.nih.gov/pubmed/36636600
http://dx.doi.org/10.1002/jmd2.12329

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