Gülden Gökçay

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

Sabine Fischer, Martina Huemer, Matthias R. Baumgartner et al. · Journal of Inherited Metabolic Disease · 2014 · 169 citations · Full text

Medicine, Radiology, Diagnostic Pathology +1

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

Sacha Ferdinandusse, Gerardo Jiménez‐Sánchez, Janet Koster et al. · Human Molecular Genetics · 2014 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text

Medicine, Internal Medicine, Nutrition +17

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

Steven F. Dobrowolski, Caroline Heintz, Trent Miller et al. · Molecular Genetics and Metabolism · 2010 · 80 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Martina Huemer, Regina Mulder‐Bleile, Patricie Burda et al. · Journal of Inherited Metabolic Disease · 2015 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15