Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with H...

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Detalles Bibliográficos
Autores principales: Sikonja, Jaka, Brecelj, Jernej, Zerjav Tansek, Mojca, Repic Lampret, Barbka, Drole Torkar, Ana, Klemencic, Simona, Lipovec, Neza, Stefanova Kralj, Valentina, Bertok, Sara, Kovac, Jernej, Faganel Kotnik, Barbara, Tesarova, Marketa, Remec, Ziga Iztok, Debeljak, Marusa, Battelino, Tadej, Groselj, Urh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856938/
https://www.ncbi.nlm.nih.gov/pubmed/35242570
http://dx.doi.org/10.1016/j.ymgmr.2021.100836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8856938/
https://www.ncbi.nlm.nih.gov/pubmed/35242570
http://dx.doi.org/10.1016/j.ymgmr.2021.100836

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