Publications & Works

Journal articles indexed in SCI, SSCI, and AHCI
Articles Published in Other Journals
Papers Presented at Peer-Reviewed Scientific Conferences

Listening Parents Caring A Child With Phenylketonuria

3rd International Developmental Pediatrics Association Congress, 9 - 12 December 2019, (Summary Text)

Fenilketonüri ile Yaşamak: Anne Ve Babaların Penceresinden

63. Türkiye Milli Pediatri Kongresi, Turkey, 30 October - 03 November 2019, (Summary Text)

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, (Summary Text)

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, (Summary Text) 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, (Summary Text)

Mukopolisakkaridozlu (MPS) Çocuklarda Otomatik ve İstemli Motor Kontrol Performanslarının İncelenmesi:Pilot Çalışma

13.Uluslararası Kulak Burun Boğaz ve Baş Boyun Cerrahisi Kongresi, 5 - 07 April 2018, pp.52, (Summary Text)

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, (Summary Text) 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, (Summary Text) 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, (Summary Text)

Mucopolysaccharidosis in a patyient with congenital glaucoma

13. International Congress of İnborn Errors of metabolism, 5 - 08 September 2017, (Summary Text)

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, (Summary Text)

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, (Summary Text)

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, (Summary Text)

The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients

International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5, (Summary Text)

Etilmelonik ensefalopati: vaka sunumu

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017, (Summary Text)

Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.148, (Summary Text)

Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.152, (Summary Text)

Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.150, (Summary Text)

Oral health status in patients with mucopolysaccharidoses

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

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, (Summary Text) Creative Commons License identifier

Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler Karakterizasyonu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015, (Summary Text)

Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisi

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015, (Summary Text)

Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015

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, (Summary Text) identifier

AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY

JOURNAL OF INHERITED METABOLIC DISEASE, 20 October 2012, vol.35, pp.145, (Summary Text)

A novel mutation in DGUOK gene in a Turkish newborn

J Inherit Metab Dis 2010;33(1):S81, P-229. (SSIEM, Annual Symposium, 2010, İstanbul, Turkey)., İstanbul, Turkey, 31 August 2010, (Summary Text)
Books

Nörotransmitter Bozukluklarında Klinik Yaklaşım

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

Publication

124

Citation (WoS)

158

H-Index (WoS)

7

Citation (Scopus)

343

H-Index (Scopus)

12

Project

15

Open Access

14
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