Publications & Works

Articles 93
All (93)
SCI-E, SSCI, AHCI (78)
SCI-E, SSCI, AHCI, ESCI (86)
ESCI (8)
Scopus (81)
TRDizin (14)
Other Publications (1)
Papers Presented at Peer-Reviewed Scientific Conferences 97

1. Mukopolisakkaridoz Tanılı Hastaların ve Bakım Verenlerinin Yaşam Kalitesi ve İlgili Faktörler

XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Turkey, 28 April - 02 May 2024, (Summary Text)

2. X’e Bağlı Adrenolökodistrofi olan Beş Vakanın ABCD1 Genetik Analizi

Ankara Bilkent Şehir Hastanesi 1. Pediatri Kongresi , Ankara, Turkey, 17 - 19 October 2024, pp.132-133, (Summary Text) Creative Commons License

5. Bone Turnover in Patients with Lysosomal Storage Disorders

Annual Symposium 2023, Jerusalem, Yerushalayim, Israel, 29 August - 01 September 2023, (Summary Text) Creative Commons License

13. Lysosphingolipids in the screening of sphingolipidoses

360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Turkey, 04 October 2022, (Summary Text)

19. Gaucher Tip I Hastalığında Kardiyak Tutulumun Erken Saptanması için Bir Alternatif: Speckle Tracking Ekokardiyografi

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi 25-27 Kasım 2021 Çevrimiçi Kongre http://lizozomal2021.org/, Turkey, 25 - 27 November 2021, (Summary Text)

20. MPS 6 Hastalarında Klinik Bulgular, ERT önce ve Sonrası Olay Bazlı Değerlendirme

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 25 - 27 November 2021, (Summary Text)

21. İNFANTİL TİP POMPE HASTALIĞI ULUSAL KONSENSUS ÇALIŞMASI

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 25 - 27 November 2021, (Summary Text)

24. 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, (Summary Text) identifier

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

SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 September 2019, (Summary Text)

30. 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, (Summary Text)

31. 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, (Summary Text)

32. 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, (Summary Text)

33. 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, (Summary Text)

34. 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, (Summary Text)

35. 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, (Summary Text)

36. 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, (Summary Text)

37. 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, (Summary Text)

38. Hyperinsulinemic Hypoglycemia: Think of GLUD1 dgene mutation leading to Hyperinsulinemic hyperammonemia (HI/HA syndrome)

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Turkey, 10 - 14 April 2019, (Summary Text)

47. RENAL INVOLMENT IN FABRY DİSEASE

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

55. 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, (Summary Text) Creative Commons License

56. Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu

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

57. Ai̇levi̇ Hi̇perkolesterolemi̇ Olan Türk Hastalarda LDLR Gen Mutasyonlarinin Araştırılması

2. Ege Endokrı̇n Hastalıklar ve Genetı̇k Sempozyumu, Turkey, 23 - 25 February 2017, (Summary Text)

58. 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, (Summary Text) identifier

67. Evaluation of vitamin D levels in paediatric cancer patients

48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, Ireland, 19 - 22 October 2016, (Summary Text) Sustainable Development

68. 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, (Summary Text)

69. Identification of a novel mutation in Turkish infant with early onset monocarboxylate transporter 1 MCT1 deficiency as a cause of recurrent ketoacidosis

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

70. 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, (Summary Text)

71. The specificity and sensitivity of next generation semiconductor DNA sequencing in detecting mitochondrial DNA heteroplasmy

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

72. 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, (Summary Text)

73. 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, (Summary Text)

74. 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, (Summary Text)

75. BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

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

76. 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, (Summary Text)

78. Citrullinemia with an Atypical Presentation Paroxsymal Hypoventilation Attacks

14th International Child Neurology Congress 1–5 May 2016 Amsterdam, the Netherlands., 1 - 05 May 2016, pp.223-224, (Summary Text)

79. Mukopolisakkaridozlu Çocuklarda Çok Boyutlu Değerlendirme

V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, 14 - 17 April 2016, (Summary Text)

87. Cobalamin C disease with hypopigmented cutaneousfindings A unique case

annual symposium of the society for the study of inborn errors of metabolism, Lyon, France, 1 - 04 September 2015, vol.38, pp.319, (Summary Text)

90. Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

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

92. 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, (Summary Text) identifier

93. 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, (Summary Text) identifier

94. 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, (Summary Text) identifier

96. Three siblings with ext1 CDG

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Switzerland, 30 August - 02 September 2011

97. The Co-existence of Satoyoshi Syndrome and Myoadenylate Deaminase Deficiency

SSIEM 42st Annual Symposium,, Paris, France, 6 - 09 September 2005, vol.28, no.1, pp.253, (Full Text) identifier identifier
Books 7

1. Karbonhidrat Metabolizması Bozuklukları

in: Pediatri , Editör:Zülfikar Akelma,Yardımcı Editörler: Meltem Akçaboy, Ali Fettah, Can Demir Karacan, Fatma Nur Öz, Şenay Savaş Erdeve, Saliha Şenel, Editor, Ankara Nobel Tıp Kitabevleri, Ankara, pp.1130-1136, 2021

2. Glikojen Depo Hastalıkları ve Bağırsak Mikrobiyotası

in: Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editor, Orient Yayınevi, pp.833-841, 2021

3. Smith Lemni Opitz Sendromu ve Beslenme Tedavisi

in: Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editor, Orient Yayınevi, pp.779-795, 2021

4. Mitokondriyal Hastalıklarda Ketojenik Diyet

in: Ketojenik Diyet Tedavisi Bülten, Prof. Dr. Turgay Coşkun, Prof. Dr. Meral Topçu, Editor, Türkiye Klinikleri, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş, Ankara, pp.5-13, 2020

5. 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

6. Mitokondriyal Hastalıklar

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

7. Yoğurt ve Laktoz İntoleransı

in: YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editor, Matsis Matbaa, İstanbul, pp.107-1114, 2015
Metrics

Publication

238

Publication (WoS)

87

Publication (Scopus)

81

Citation (WoS)

536

H-Index (WoS)

14

Citation (Scopus)

573

H-Index (Scopus)

15

Citation (Scholar)

330

H-Index (Scholar)

11

Project

73

Thesis Advisory

12

Open Access

20
UN Sustainable Development Goals