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 HT...

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Auteurs principaux:	Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac, Barbara Faganel Kotnik, Marketa Tesarova, Ziga Iztok Remec, Marusa Debeljak, Tadej Battelino, Urh Groselj
Format:	Artigo
Langue:	Inglês
Publié:	Elsevier 2022-03-01
Collection:	Molecular Genetics and Metabolism Reports
Sujets:	Tyrosinemia Fumarylacetoacetate hydrolase Nitisinone Dried blood spot Succinylacetone Intronic variant
Accès en ligne:	http://www.sciencedirect.com/science/article/pii/S2214426921001312
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