Hereditary Tyrosinemia Compounded With Hyperinsulinemic Hypoglycemia: Challenging Diagnosis of a Rare Case

Hereditary tyrosinemia type 1 (HT-1) is a rare autosomal recessive disorder caused by a deficiency in the enzyme fumarylacetoacetate hydrolase (FAH), which catalyzes the final step in the tyrosine degradation pathway. Hereditary tyrosinemia is a heterogeneous disease with a wide spectrum of clinical...

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Detalles Bibliográficos
Autores principales: Nasir, Sharmeen, Raza, Mohammad, Siddiqui, Samrah I, Saleem, Ayesha, Abbas, Awais
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748566/
https://www.ncbi.nlm.nih.gov/pubmed/33365210
http://dx.doi.org/10.7759/cureus.11541

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