Meral Topçu
University of Helsinki(FI)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Carbohydrate Chemistry and Synthesis, Child Nutrition and Feeding Issues
Most-Cited Works
- → Recommendations on the diagnosis and management of Niemann-Pick disease type C(2009)233 cited
- → The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter(2007)228 cited
- → Willingness to Participate in Clinical Treatment Research Among Older African Americans and Whites(2003)162 cited
- → Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis(2009)140 cited
- → Management Strategies for CLN2 Disease(2017)117 cited
- → Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy(2004)98 cited
- Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.(2004)