Evaluation of Metabolic Changes in Acute Intermittent Porphyria Patients by Targeted Metabolomics

Acute intermittent porphyria (AIP) is an inherited rare hepatic disorder due to mutations within the hydroxymethylbilane gene. AIP patients with active disease overproduce aminolevulinic acid (ALA) and porphobilinogen (PBG) in the liver which are exported inducing severe neurological attacks. Differ...

Descripción completa

Detalles Bibliográficos
Autores principales: Gomez-Gomez, Alex, Aguilera, Paula, Langohr, Klaus, Casals, Gregori, Pavon, Cristina, Marcos, Josep, To-Figueras, Jordi, Pozo, Oscar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950560/
https://www.ncbi.nlm.nih.gov/pubmed/35328641
http://dx.doi.org/10.3390/ijms23063219

Ejemplares similares

Ejemplares similares