Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant-Reference-Cited by-同舟云学术

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

Published:2022-03 Issue: Volume:30 Page:100836
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

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

Funder

Javna Agencija za Raziskovalno Dejavnost RS

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference35 articles.

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3. The kidney in children with tyrosinemia: sonographic,CT and biochemical findings;Forget;Pediatr. Radiol.,1999

4. Neurologic crises in hereditary tyrosinemia;Mitchell;N. Engl. J. Med.,1990

5. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment;van Spronsen;Hepatology,1994

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2. Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1;BMC Medical Genomics;2022-12-03

3. Diagnostic tardif de la tyrosinémie héréditaire de type I, le cas de deux faux jumeaux;Revue Francophone des Laboratoires;2022-09