A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity

Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene. Patients with HT1 disorder present with increased blood tyrosine, succinyl acetoacetate, and succinyl acetone levels, and develop clinical manif...

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Detalles Bibliográficos
Autores principales: Kawabata, Kazuo, Kido, Jun, Yoshida, Takanobu, Matsumoto, Shirou, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254452/
https://www.ncbi.nlm.nih.gov/pubmed/35800472
http://dx.doi.org/10.1016/j.ymgmr.2022.100892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254452/
https://www.ncbi.nlm.nih.gov/pubmed/35800472
http://dx.doi.org/10.1016/j.ymgmr.2022.100892

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