Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diğer Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Lysosphingolipids in the screening of sphingolipidoses

360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Türkiye, 04 Ekim 2022

İNFANTİL TİP POMPE HASTALIĞI ULUSAL KONSENSUS ÇALIŞMASI

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 25 - 27 Kasım 2021

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

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.129 identifier

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 Nisan 2019

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

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Türkiye, 10 - 14 Nisan 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 Nisan 2019

RENAL INVOLMENT IN FABRY DİSEASE

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

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, Amerika Birleşik Devletleri, 13 - 17 Şubat 2017, cilt.120 identifier

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 Eylül 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 Eylül 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 Eylül 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 Eylül 2016, cilt.39, ss.35-284

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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

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

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

PREVALENCE OF FABRY DISEASE AMONG HEMODIALYSIS PATIENTS IN TURKEY

50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress, İstanbul, Türkiye, 18 - 21 Mayıs 2013, cilt.28, ss.321 identifier

Metrikler

Yayın

109

Atıf (WoS)

236

H-İndeks (WoS)

9

Atıf (Scopus)

256

H-İndeks (Scopus)

9

Proje

11

Tez Danışmanlığı

1

Açık Erişim

6
BM Sürdürülebilir Kalkınma Amaçları