Mübeccel Demirkol

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 · 133 citations

Management of phenylketonuria in Europe: Survey results from 19 countries

Nenad Blau, Amaya Bélanger‐Quintana, Mübeccel Demirkol et al. · Molecular Genetics and Metabolism · 2009 · 117 citations

Urology, Medicine, Survey Results +2

Challenges and Pitfalls in the Management of Phenylketonuria

François Feillet, Francjan J. van Spronsen, Anita MacDonald et al. · PEDIATRICS · 2010 · 107 citations

Nutrition, Metabolic Disorder, Phenylalanine-restricted Diet +16

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene

Katie L. Swango, Mübeccel Demirkol, Gülden Hüner et al. · Human Genetics · 1998 · 92 citations

D444h Mutation, Biochemistry, Genetic Disorder +9

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 · 79 citations

Aldehyde Dehydrogenase, Cellular Enzymology, Turkish Pku Population +10