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A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria
Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
HBKU Press
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9577391/ https://www.ncbi.nlm.nih.gov/pubmed/36304064 http://dx.doi.org/10.5339/qmj.2022.46 |