Gülden Fatma Gökçay|Gulden Fatma Gokcay, Gulden Huner, Gulden Gokcay

Gülden Fatma Gökçay|Gulden Fatma Gokcay, Gulden Huner, Gulden Gokcay

İstanbul University - İstanbul / Türkiye
Medical and Health Sciences / Pediatrics and Child Health
AD Scientific Index ID: 209380
İstanbul Üniversitesi
person_outline Gülden Fatma Gökçay|Gulden Fatma Gokcay, Gulden Huner, Gulden Gokcay's MOST POPULAR ARTICLES
1-) Clinical presentation and outcome in a series of 88 patients with the cblC defectS Fischer, M Huemer, M Baumgartner, F Deodato, D Ballhausen, A Boneh, ...Journal of inherited metabolic disease 37 (5), 831-840, 20141412014
2-) A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3S Ferdinandusse, G Jimenez-Sanchez, J Koster, S Denis, ...Human molecular genetics 24 (2), 361-370, 20151332015
3-) Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practiceS Mayorandan, U Meyer, G Gokcay, NG Segarra, HO de Baulny, ...Orphanet journal of rare diseases 9, 1-16, 20141312014
4-) Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU populationSF Dobrowolski, C Heintz, T Miller, C Ellingson, C Ellingson, I Özer, ...Molecular genetics and metabolism 102 (2), 116-121, 20111202011
5-) Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase geneKL Swango, M Demirkol, G Hüner, E Pronicka, J Sykut-Cegielska, ...Human genetics 102, 571-575, 19981051998