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Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda

Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases. Biochemical evaluation was notable for elevated uroporphyrin, consistent with porph...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Strong, Alanna, Keller, Kierstin, Merves, Jamie
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7451419/
https://ncbi.nlm.nih.gov/pubmed/32874917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100638
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