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Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy

Tyrosinemia type III is the rarest type of tyrosinemia, because of a mutation in 4-OH-phenylpyruvate dioxygenase (HPD). This causes two different types of diseases with different modes of inheritance: tyrosinemia type III and hawkinsinuria. Hawkinsinuria is an autosomal dominant disease, which prese...

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Publicat a:Front Pediatr
Autors principals: El Khatib, Hassan, Asaad, Bilal, Zaylaa, Aisha, Awad, Farah, Sbeity, Mariam, Mneimneh, Sirin, Haber, Georges, Naja, Zeina, Rajab, Mariam
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6449416/
https://ncbi.nlm.nih.gov/pubmed/30984715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00069
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