Results of a Pilot Study of Isoniazid in Patients with Erythropoietic Protoporphyria

Erythropoietic protoporphyria (EPP), the most common porphyria of childhood and the third most common porphyria of adulthood, is characterized clinically by painful, non-blistering cutaneous photosensitivity. Two distinct inheritance patterns involving mutations affecting genes that encode enzymes o...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab
Main Authors: Parker, Charles J., Desnick, Robert J., Bissel, Montgomery D., Bloomer, Joseph R., Singal, Ashwani, Gouya, Laurent, Puy, Herve, Anderson, Karl E., Balwani, Manisha, Phillips, John D.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6911826/
https://ncbi.nlm.nih.gov/pubmed/31395332
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.07.017
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