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

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

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.4, pp.418-422, 2014 (Journal Indexed in SCI) identifier identifier identifier

The effect of zinc on ethanol-induced oxidative stress in rat liver

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, vol.37, no.4, pp.437-444, 2012 (Journal Indexed in SCI) Creative Commons License identifier identifier

Asymmetrical dimethylarginine level in atrial fibrillation

ACTA CARDIOLOGICA, vol.63, no.1, pp.33-37, 2008 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Triamterene-induced suppression of R227X premature termination codon in Fabry disease

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, United States Of America, 10 - 14 February 2020, vol.129 identifier

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

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

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

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

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, United States Of America, 13 - 17 February 2017, vol.120 identifier

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

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

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

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

Importance of family screening in Fabry disease: Reaching the bottom of the iceberg

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114 identifier

Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114 identifier

The results of enzyme studies in the diagnosis of lysosomal diseases: 8 years experience of Gazi University, Ankara, Turkey

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114 identifier

PREVALENCE OF FABRY DISEASE AMONG HEMODIALYSIS PATIENTS IN TURKEY

50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress, İstanbul, Turkey, 18 - 21 May 2013, vol.28, pp.321 identifier