Concepedia

Ayşegül Tokatlı

AT

Statistics

Publications

45

Citations

1.7K

H-Index

21

Active since

1994

Affiliations

Hacettepe University(Current)

Hacettepe University Hospital

Aksaray University

Ministry of Health

Dr Sami Ulus Çocuk Sağlığı ve Hastalıkları Eğitim ve Araştırma Hastanesi

Ayşegül Tokatlı is an author at Hacettepe University specializing in medical genetics, life sciences, and genetics.

Publications per year

1994–2024

45

Publications

45

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 et al. · Brain · 2007 · 319 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

Stefan Kölker, Sven F. Garbade, Cheryl R. Greenberg et al. · Pediatric Research · 2006 · 271 citations · Full text

Medicine, Child Health, Pediatrics +3

Delayed-onset profound biotinidase deficiency

Barry Wolf, Robert J. Pomponio, Karen J. Norrgard et al. · The Journal of Pediatrics · 1998 · 84 citations

Life Sciences, Biochemistry, Nutritional Sciences +10

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 et al. · Human Mutation · 2003 · 84 citations

Life Sciences, Genetics, Molecular Genetics +17

Key features and clinical variability of COG6-CDG

Daisy Rymen, Julia Winter, Peter M. van Hasselt et al. · Molecular Genetics and Metabolism · 2015 · 59 citations

Life Sciences, Hematology, Human Genetics +1

1–5 of 45