Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation-Reference-Cited by-同舟云学术

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Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation

Published:2016-09-04 Issue:10 Volume:58 Page:1069-1072
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Gokay Songul¹,Kendirci Mustafa¹,Ustkoyuncu Pembe Soylu¹,Kardas Fatih¹,Bayram Ayse Kacar²,Per Hüseyin²,Poyrazoğlu Hatice Gamze³

Affiliation:

1. Division of Pediatric Nutrition and Metabolism; Department of Pediatrics; Faculty of Medicine; Erciyes University; Kayseri Turkey

2. Division of Pediatric Neurology; Department of Pediatrics; Faculty of Medicine; Erciyes University; Kayseri Turkey

3. Division of Pediatric Neurology; Department of Pediatrics; Faculty of Medicine; Fırat University; Elazığ Turkey

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.13062/fullpdf

Reference11 articles.

1. Tyrosinemia type II: Nine cases of ocular signs and symptoms;Macsai;Am. J. Ophthalmol.,2001

2. A case of tyrosinemia type II with convulsion and EEG abnormality;Kato;No To Hattatsu,1993

3. Isolation and characterization of the human tyrosine aminotransferase gene;Rettenmeier;Nucleic Acids Res.,1990

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2. Protein-protein interfaces as druggable targets: a common motif of the pyridoxal-5′-phosphate-dependent enzymes to receive the coenzyme from its producer;Биохимия;2023-12-15

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4. Protein-protein interfaces as druggable targets: A common motif of the pyridoxal-5’-phosphate-dependent enzymes to receive the coenzyme from its producers;2023-02-13

5. The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III);Orphanet Journal of Rare Diseases;2022-12-05

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