Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Listening Parents Caring A Child With Phenylketonuria

3rd International Developmental Pediatrics Association Congress, 9 - 12 December 2019

Hyperphenylalaninemia due to novel JCDNA12 mutation

SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324

THE BURDEN OF ILLNESS IN ADULTS WITH PHENYLKETONURIA (PKU): INTERIM ANALYSIS OF A CROSS-SECTIONAL STUDY CONDUCTED IN NORTH AMERICA AND EUROPE

41st Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Washington, United States Of America, 6 - 09 April 2019, vol.126, pp.293 identifier

Oxysterol levelsas oxidative stress biomarkers in organic acidemia patients

SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 04 September 2018 - 07 September 2017, vol.41, pp.37-219

Presenting signs and symptoms of MPS: Results of an international physician survey

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, United States Of America, 5 - 09 February 2018, vol.123 identifier

Presenting signs and symptoms of MPS: Results of a systematic literature analysis

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, United States Of America, 5 - 09 February 2018, vol.123 identifier

Biotin May Lead To High Free Thyroxine Levels in Some Immunoassay Methods

69th AACC ANNUAL SCIENTIFIC MEETING, SAN DIEGO, United States Of America, 30 July - 03 August 2017, vol.63

Mucopolysaccharidosis in a patyient with congenital glaucoma

13. International Congress of İnborn Errors of metabolism, 5 - 08 September 2017

Oxysterol levels in Organic Acidemia patients: Preliminary results.

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

Hyperphenylalaninemia in Argininosuccinic Aciduria: A case report.

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

Three-year experience of pediatric physicians with adult inpatient consultations

13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brazil, 5 September - 08 May 2017

Etilmelonik ensefalopati: vaka sunumu

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

Oral health status in patients with mucopolysaccharidoses

13. CONGRESS OF THE EUROPEAN ACADEMY OF PAEDIATRICDENTISTRY, Belgrade, Serbia, 2 - 05 June 2016

Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial

18th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Louisiana, United States Of America, 13 - 16 May 2015, vol.23 Creative Commons License identifier

Two adult siblings with progressive walking difficulty and visual disturbances

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

Books & Book Chapters

Nörotransmitter Bozukluklarında Klinik Yaklaşım

in: Kalıtsal Metabolik Hastalıklarda Hareket Bozuklukları, Dursun,Ali, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.20-29, 2020