Diagnostic tardif de la tyrosinémie héréditaire de type I, le cas de deux faux jumeaux

Author:

Djeddou Meriem

Publisher

Elsevier BV

Subject

Biochemistry (medical),Medical Laboratory Technology,Analytical Chemistry

Reference8 articles.

1. Online Mendelian Inheritance in Man® (OMIM®). 276700 Tyrosinemia, Type I ; Tyrsn1. www.omim.org/entry/276700

2. Sikonja J, Brecelj J, Zerjav Tansek M, et al. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant. Mol Genet Metab Rep. 2021;30:100836. doi: 10.1016/j.ymgmr.2021.100836.

3. Hypertyrosinemia. In: Scriver CR. Beaudet AL, Sly WS. Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease;Mitchell,2001

4. Tyrosinemia type 1 in pediatric nephrology: Not always straightforward;Brito Dos Santos;Arch Pediatr,2021

5. Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1;Dweikat;Metabol Open,2021

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