Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.6, pp.805-812, 2021 (Journal Indexed in SCI) identifier identifier identifier

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

ANNALS OF NUTRITION AND METABOLISM, vol.76, no.4, pp.233-241, 2020 (Journal Indexed in SCI) identifier identifier identifier

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Acta neurologica Belgica, vol.119, no.4, pp.623-625, 2019 (Journal Indexed in SCI Expanded) Creative Commons License identifier identifier identifier

Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, vol.29, no.12, pp.1207-1211, 2019 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Articles Published in Other Journals

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.13, no.2, pp.276-278, 2018 (Journal Indexed in ESCI) identifier identifier identifier

Refereed Congress / Symposium Publications in Proceedings

Screening of Twelve Lysosomal Storage Diseases with LC-MS/MS in Gazi University Hospital: The First Results of Validation.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019

Cornelia de Lange Syndrome and Glycogen Storage Disease Together in a Patient

Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Turkey, 10 - 14 April 2019

A Very Rare Disease: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (Hhh) Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Novel Mutation in FBP1 Gene Presenting with Recurrent Episodes of Vomiting in A Child

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Hyperinsulinemic Hypoglycemia: Think of GLUD1 Gene Mutation Leading To Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Novel Mutation in Two Siblings with Normouricemic Lesch Nyhan Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

A Novel Rars2 Mutation in Two Siblings with Microcephaly, Seizures and Liver Involvement

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Growth Hormone Treatment: Reverses Catabolic Process in Inborn Errors of Metabolism

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal storage Diseases

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019

Gaucher Disease and Pregnancy

Gaucher Symposium, İstanbul, Turkey, 21 - 22 October 2018

RENAL INVOLMENT IN FABRY DİSEASE

14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Greece, 9 - 11 February 2018

Renal İnvolvement in Fabry Disease

13.International Congress of Inborn Errors of Metabolism., Rio de Janeiro, Brazil, 5 - 08 September 2017

İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

13th International Congress of Inborn Errors of Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5 Creative Commons License

Evaluation of chitotriosidase and high sensitivity c reactive protein levels in mucopolysaccaridosis

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Early initiation of investigational enzyme replacement therapy in a 9 month old infant with mucopolysaccharidosis type VII

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Bone mineral density and vitamin D status in inborn errors of metabolism

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Do cytokine levels play a role in pathogenesis of mucopolysaccaridosis patients

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Type 1 hypersensitivity reaction and desensitization with Elosulphase alpha

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Identification of a novel mutation in Turkish infant with early onset monocarboxylatetransporter1 MCT1 deficiencyasacauseofrecurrent ketoacidosi

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, vol.39, pp.35-284

Patient with Niemann Pick type C presenting with lymphatic in volvement with Niemann Pick cells in the left jaw

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, 1 - 04 September 2015

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Books & Book Chapters

Yağ Asidi Oksidasyon Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1126-1130, 2020

Normal Çocuklukta Beslenme ve Beslenme Bozuklukları

in: Lange - Current Tanı ve Tedavi Pediatri, Prof.Dr. Enver Hasanoğlu Prof.Dr. Aysun Bideci Prof.Dr. Elif N. Özmert Prof.Dr. Sevcan A. BAKKALOĞLU EZGÜ, Editor, ema tıp kitapevi, pp.281-308, 2018

Mitokondriyal Hastalıklar

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitapevi, Ankara, pp.1779-1790, 2017

Vitamin K

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevi, Ankara, pp.1552-1556, 2017