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Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study

BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological manifestations. Treatment of HT1 consists of tyr...

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Detalles Bibliográficos
Autores principales: Megdadi, Noor A., Almigdad, Ahmad K., Alakil, Mo'men O., Alqiam, Shahrazad M., Rababah, Sumaia G., Dwiari, Moshera A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8660245/
https://www.ncbi.nlm.nih.gov/pubmed/34899923
http://dx.doi.org/10.1155/2021/3327277

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