Ayşegül Tokatlı - Concepedia

Author

Ayşegül Tokatlı

Also Known As

A Tokatli, A. Tokatli, A. Tokatlı, A. Tokatlι, A., Tokatlı, AYŞEGÜL TOKATLI, Ay?eg�l Tokatli, Aysegul Tokatli, Aysegul Tokatlı, Aysegül Tokatli

157

Publications

2.3K

Citations

H-Index

104

Concepts

All Affiliations

Hacettepe University Hacettepe University Hospital Aksaray University Ministry of Health Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi

About

Ayşegül Tokatlı is an author at Hacettepe University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	24	1.2K
2	Health Sciences	4	4	641
3	Public Health	3	3	68
4	Arts	2	2	70
5	Natural Sciences	2	2	102

Ayşegül Tokatlı

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene Klaus Gempel, Haluk Topaloğlu, Beril Talim, Brain Metabolic DisorderCoenzyme Q10GeneticsMolecular BiologyPathology	2007	317
Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg, Pediatric Research NutritionMetabolic DisorderPediatric HematologyTreatment EfficacyHematology	2006	266
Delayed-onset profound biotinidase deficiency Barry Wolf, Robert J. Pomponio, Karen J. Norrgard, The Journal of Pediatrics BiochemistryHeme HomeostasisNatural SciencesMolecular BiologyDegenerative Disease	1998	84
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients Hong‐Zhi Gao, Keiko Kobayashi, Ayako Tabata, Human Mutation Argininosuccinate Synthetase GeneClassical Citrullinemia PatientsGenetic DisorderGeneticsAss Mutations	2003	83
Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism Müge Gökçe, Özlem Ünal, Burcu Öztürk Hişmi, Pediatric Hematology and Oncology	2011	58
Key features and clinical variability of COG6-CDG Daisy Rymen, Julia Winter, Peter M. van Hasselt, Molecular Genetics and Metabolism Key FeaturesAutoimmune DiseaseDiagnostic TestBlood CellMedicine	2015	55
Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation Hatice Serap Sivri, Gülsüm Aydan Genç, Ayşegül Tokatlı, The Journal of Pediatrics Health SciencesPhysiologyAudiologyArtsAuditory Physiology	2007	47
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations M. J. Valstar, Aida M. Bertoli‐Avella, Marja W. Wessels, Human Mutation Neurological DisorderImmunodeficienciesGeneticsImmunologyPathology	2010	45
The molecular basis of familial hypercholesterolaemia in Turkish patients Mert Sozen, Ros Whittall, Cihan Öner, Atherosclerosis Metabolic SyndromeLipid DisorderTurkish PatientsCardiovascular DiseaseHyperlipidemia	2005	43
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening Mehmet Ali Karaca, Rıza Köksal Özgül, Özlem Ünal, European Journal of Pediatrics Genetic TestingTurkish PatientsFamily ScreeningGenetic DisorderMedicine	2015	37

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