G. Gökçay

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Nenad Blau, N. Blau, S. Dobrowolski, 2011, Molecular genetics and metabolism.

Adult phenotype and further phenotypic variability in SRD5A3-CDG

A. Tolun, B. Kara, G. Gökçay, 2014, BMC Medical Genetics.

Measurement of serum vitamin B12-related metabolites in newborns: implications for new cutoff values to detect B12 deficiency

F. Baş, Z. Karakaş, A. Uçar, 2019, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

A. Moser, D. Valle, G. Jiménez-Sánchez, 2015, Human molecular genetics.

Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry.

A. Das, M. Peter, T. Lücke, 2014, Clinica chimica acta; international journal of clinical chemistry.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

Clinical presentation and outcome in a series of 88 patients with the cblC defect

M. Baumgartner, H. Mandel, E. Martins, 2014, Journal of Inherited Metabolic Disease.

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

A. Ribes, C. Greenberg, S. Kölker, 2014, Journal of Inherited Metabolic Disease.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis

G. Gökçay, Meryem Karaca, M. C. Balci, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa

M. Okubo, T. Ebara, Y. Aoyama, 2010, Pediatrics international : official journal of the Japan Pediatric Society.

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

L. Zoetekouw, R. Hennekam, J. Bierau, 2010, Nucleosides, nucleotides & nucleic acids.

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

A. Das, M. Peter, J. Sander, 2011, Clinica chimica acta; international journal of clinical chemistry.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

S. Grünert, J. Sass, T. Derks, 2017, Molecular genetics and metabolism.

Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III.

E. Yekeler, M. Dursun, F. Demir, 2007, The Turkish journal of pediatrics.

Molecular genetics of maple syrup urine disease in the Turkish population.

T. Coşkun, A. Dursun, U. Wendel, 2009, The Turkish journal of pediatrics.

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

N. Blau, S. Dobrowolski, B. Thöny, 2011, Molecular genetics and metabolism.

A Severe Form of Non-Classic Pompe's Disease with Normal Creatinine Kinase Level

A. Çıtak, M. Karaböcüoğlu, D. Demirkol, 2010, Neuropediatrics.