Doç. Dr. Nafiye Emel ÇAKAR

1. The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders

ÇAKAR N. E., YILMAZBAŞ N. P., Karaca M., Durmuş A., Selamioğlu A., Körbeyli H. K., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.39, sa.8, ss.803-809, 2026 (SCI-Expanded, Scopus)

2. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

Yılmaz-Gümüş E., KILAVUZ S., Demir Ş., Aydoğan A., Genç E., Akar H. T., et al.

Molecular Genetics and Metabolism , cilt.148, sa.4, 2026 (SCI-Expanded, Scopus)

3. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

İdrisoäÿlu M. F., Kazar Hakgör N., Ertürk B., ÇAKAR N. E.

Journal of Pediatric Endocrinology and Metabolism , 2026 (SCI-Expanded, Scopus)

4. Sensitivity to food additives in autism spectrum disorder: effects and implications

Karaca Şahin M., Karamanlı G., ÇAKAR N. E., ÖZÇEKER D.

International Journal of Developmental Disabilities , 2025 (SSCI, Scopus)

5. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

Molla G. K., Uzun Ö. Ü., Agakisili H. B., Genç E., Gülten Z. A., Yıldırım T., et al.

Frontiers in Neurology , cilt.16, 2025 (SCI-Expanded, Scopus)

6. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

Altuntaş C., Uzunhan T. A., Ertürk B., Petmezci M. T., ÇAKAR N. E., Noyan B., et al.

Clinical Neurology and Neurosurgery , cilt.236, 2024 (SCI-Expanded, Scopus)

7. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

Altuntaş C., Uzunhan T. A., Ertürk B., Petmezci M. T., ÇAKAR N. E., Noyan B., et al.

Clinical Neurology and Neurosurgery , cilt.229, 2023 (SCI-Expanded, Scopus)

8. Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis

Aksu Uzunhan T., Maraş Genç H., Kutlubay B., Kalın S., Bektaş G., Yapıcı Ö., et al.

Brain and Development , cilt.43, sa.9, ss.919-930, 2021 (SCI-Expanded, Scopus)

9. 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation

ÇAKAR N. E., Görükmez O.

Annals of Indian Academy of Neurology , cilt.24, sa.3, ss.372-378, 2021 (SCI-Expanded, Scopus)

10. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

TEKE KISA P., Gunduz M., Dorum S., Uzun O. U., ÇAKAR N. E., KILIÇ YILDIRIM G., et al.

European Journal of Medical Genetics , cilt.64, sa.5, 2021 (SCI-Expanded, Scopus)

11. Cases of inborn errors of metabolism diagnosed in children with autism

ÇAKAR N. E., Yilmazbas P.

Ideggyogyaszati Szemle , cilt.74, sa.1-2, ss.67-72, 2021 (SCI-Expanded, Scopus)

12. A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation

Uzunhan T. A., ÇAKAR N. E., Seyhan S., Aydin K.

Brain and Development , cilt.42, sa.10, ss.756-761, 2020 (SCI-Expanded, Scopus)

13. P wave dispersion and ventricular repolarization changes in children with familial hypercholesterolemia

ÇAKAR N. E., Irdem A.

Cardiology in the Young , cilt.30, sa.11, ss.1643-1648, 2020 (SCI-Expanded, Scopus)

14. Novel variants in Turkish patients with glycogen storage disease

ÇAKAR N. E., Gezdirici A., Topuz H. Ş., ÖNAL H.

Pediatrics International , cilt.62, sa.10, ss.1145-1150, 2020 (SCI-Expanded, Scopus)

15. A case of juvenile Canavan disease with distinct pons involvement

ÇAKAR N. E., Aksu Uzunhan T.

Brain and Development , cilt.42, sa.2, ss.222-225, 2020 (SCI-Expanded, Scopus)

16. Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene

ÇAKAR N. E., Seyhan S.

Neurology Asia , cilt.25, sa.4, ss.623-626, 2020 (SCI-Expanded, Scopus)

17. Features of multiple pregnancies obtained by in vitro fertilization or spontaneously

ÇAKAR N. E., Kavuncuoʇlu S., YILDIZ ALDEMİR E., Çetinkaya M., GÜZELTAŞ A., Arslan G.

Pediatrics International , cilt.56, sa.5, ss.735-741, 2014 (SCI-Expanded, Scopus)

Doç. Dr. Nafiye Emel ÇAKAR

Yayınlar & Eserler

1. The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders

2. Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort

3. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

4. Sensitivity to food additives in autism spectrum disorder: effects and implications

5. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

6. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

7. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

8. Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis

9. 3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation

10. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

11. Cases of inborn errors of metabolism diagnosed in children with autism

12. A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation

13. P wave dispersion and ventricular repolarization changes in children with familial hypercholesterolemia

14. Novel variants in Turkish patients with glycogen storage disease

15. A case of juvenile Canavan disease with distinct pons involvement

16. Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene

17. Features of multiple pregnancies obtained by in vitro fertilization or spontaneously

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Yayın (WoS)

Yayın (Scopus)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

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