Case Report: Lack of Response to Givosiran in a Case of ALAD Porphyria
Introduction: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an autosomal recessive disease characterized by a profound deficiency in ALAD, the second enzyme in the heme biosynthetic pathway, and acute neurovisceral attacks with abdominal pain and peripheral neuropathy. Hemin infusions...
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| Asıl Yazarlar: | , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
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Frontiers Media S.A.
2022-08-01
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| Seri Bilgileri: | Frontiers in Genetics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fgene.2022.867856/full |
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