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

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

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

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.

Afiliação

Sikonja J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Brecelj J; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Zerjav Tansek M; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Repic Lampret B; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Drole Torkar A; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Klemencic S; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Lipovec N; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Stefanova Kralj V; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Bertok S; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Kovac J; Unit for Clinical Dietetics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Faganel Kotnik B; Department of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Tesarova M; Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Remec ZI; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Debeljak M; Department of Haematology and Oncology, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Battelino T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Groselj U; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.

Mol Genet Metab Rep ; 30: 100836, 2022 Mar.

Article em En | MEDLINE | ID: mdl-35242570

Palavras-chave

AFP, alpha-fetoprotein; ALP, alkaline phosphatase; ALT, alanine transaminase; AST, aspartate transaminase; DBS, dried blood spot; Dried blood spot; FAH, fumarylacetoacetate hydrolase; Fumarylacetoacetate hydrolase; GGT, gamma glutamyl transferase; HT1, tyrosinemia type 1; INR, international normalized ratio; Intronic variant; MS/MS, tandem mass spectrometry; NBS, newborn screening; NTBC, nitisinone; Nitisinone; PTT, partial thromboplastin time; RF, reference range; SA, succinylacetone; Succinylacetone; Tyrosinemia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article