Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1

BACKGROUND: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to severe hepatic, renal and peripheral nerve damage...

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Detalles Bibliográficos
Autores principales: Dweikat, Imad, Qawasmi, Nada, Najeeb, Aysha, Radwan, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Original Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868710/
https://www.ncbi.nlm.nih.gov/pubmed/33598652
http://dx.doi.org/10.1016/j.metop.2021.100083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868710/
https://www.ncbi.nlm.nih.gov/pubmed/33598652
http://dx.doi.org/10.1016/j.metop.2021.100083

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