Mahmut Çöker
Ege University(TR)Centre for Movement Disorders(CA)Ege Üniversitesi Tıp Fakültesi Hastanesi(TR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Amino Acid Enzymes and Metabolism, Mitochondrial Function and Pathology
Most-Cited Works
- → A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency(2015)241 cited
- → Clinical course of sly syndrome (mucopolysaccharidosis type VII)(2016)164 cited
- → Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype(2003)121 cited
- → An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study(2010)120 cited
- → Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey(2014)95 cited
- → Biotinidase Deficiency: Prevalence, Impact And Management Strategies.(2020)89 cited