Ali Dursun
Hacettepe University(TR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Diet and metabolism studies, Lysosomal Storage Disorders Research, Neonatal Health and Biochemistry
Most-Cited Works
- → Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency(2006)268 cited
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients(2003)83 cited
- → Dry Eye Related to Commonly Used New Antidepressants(2015)78 cited
- Newborn PKU screening in Turkey: at present and organization for future.(2001)
- → Transient nonketotic hyperglycinemia: two case reports and literature review(2003)51 cited
- → The molecular basis of familial hypercholesterolaemia in Turkish patients(2005)43 cited
- → Mutations in the G6PC3 gene cause Dursun syndrome(2010)39 cited
- → Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening(2015)38 cited
- → The genotypic and phenotypic spectrum of MTO1 deficiency(2017)37 cited