Sema Kalkan Uçar
Ege University(TR)Centre for Movement Disorders(CA)Sağlık Bilimleri Üniversitesi(TR)Ege Üniversitesi Tıp Fakültesi Hastanesi(TR)Bursa Yuksek Ihtisas Egitim Ve Arastirma Hastanesi(TR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Glycogen Storage Diseases and Myoclonus, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness(2012)206 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
- → The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation(2013)78 cited
- → Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases(2017)72 cited
- → Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire(2022)62 cited