Gülden Hüner

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

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

Vasiliki Ninis, Elif Dağlı, Mübeccel Demirkol et al. · American Journal of Medical Genetics · 2002 · 63 citations · Full text

Novel mutations cause biotinidase deficiency in Turkish children

Robert J. Pomponio, Turgay Coşkun, Mübeccel Demirkol et al. · Journal of Inherited Metabolic Disease · 2000 · 45 citations

Seventeen novel mutations that cause profound biotinidase deficiency

Barry Wolf, Kevin P. Jensen, Gülden Hüner et al. · Molecular Genetics and Metabolism · 2002 · 34 citations

Seventeen Novel Mutations, Genetic Disorder, Genetics +4

Breastfeeding experience in inborn errors of metabolism other than phenylketonuria

Gülden Hüner, T. Baykal, Fatih Demir et al. · Journal of Inherited Metabolic Disease · 2004 · 33 citations