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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Detalles Bibliográficos
Autores principales: Graff, Erica, Anderson, Karl E., Levy, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386060/
https://www.ncbi.nlm.nih.gov/pubmed/35991568
http://dx.doi.org/10.3389/fgene.2022.867856

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386060/
https://www.ncbi.nlm.nih.gov/pubmed/35991568
http://dx.doi.org/10.3389/fgene.2022.867856

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