Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Diğer Dergilerde Yayınlanan Makaleler
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Bone Turnover in Patients with Lysosomal Storage Disorders

Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos - 01 Eylül 2023 Creative Commons License

Lysosphingolipids in the screening of sphingolipidoses

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

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/, Türkiye, 25 - 27 Kasım 2021

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

Cornelia de Lange Syndrome and Glycogen Storage Disease Together in a Patient

Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Türkiye, 10 - 14 Nisan 2019

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 Nisan 2019

Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019

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 Nisan 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 Nisan 2019

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 Nisan 2019

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, Türkiye, 10 - 14 Nisan 2019

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 Nisan 2019

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 Nisan 2019

RENAL INVOLMENT IN FABRY DİSEASE

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

İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

13th International Congress of Inborn Errors of Metabolism - ICIEM 2017, 5 - 08 Eylül 2017, cilt.5 Creative Commons License

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 vitamin D levels in paediatric cancer patients

48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, İrlanda, 19 - 22 Ekim 2016 Sürdürülebilir Kalkınma

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

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

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 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

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 Eylül 2016

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 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

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016

Citrullinemia with an Atypical Presentation Paroxsymal Hypoventilation Attacks

14th International Child Neurology Congress 1–5 May 2016 Amsterdam, the Netherlands., 1 - 05 Mayıs 2016, ss.223-224

Cobalamin C disease with hypopigmented cutaneousfindings A unique case

annual symposium of the society for the study of inborn errors of metabolism, Lyon, Fransa, 1 - 04 Eylül 2015, cilt.38, ss.319

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015

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

Three siblings with ext1 CDG

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, İsviçre, 30 Ağustos - 02 Eylül 2011
Kitap & Kitap Bölümleri

Karbonhidrat Metabolizması Bozuklukları

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

Glikojen Depo Hastalıkları ve Bağırsak Mikrobiyotası

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, Editör, Orient Yayınevi, ss.833-841, 2021

Smith Lemni Opitz Sendromu ve Beslenme Tedavisi

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, Editör, Orient Yayınevi, ss.779-795, 2021

Mitokondriyal Hastalıklarda Ketojenik Diyet

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

Normal Çocuklukta Beslenme ve Beslenme Bozuklukları

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, Editör, ema tıp kitapevi, ss.281-308, 2018

Mitokondriyal Hastalıklar

Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitapevi, Ankara, ss.1779-1790, 2017

Yoğurt ve Laktoz İntoleransı

YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editör, Matsis Matbaa, İstanbul, ss.107-1114, 2015
Metrikler

Yayın

225

Atıf (WoS)

445

H-İndeks (WoS)

13

Atıf (Scopus)

497

H-İndeks (Scopus)

13

Atıf (Scholar)

302

H-İndeks (Scholar)

11

Proje

70

Tez Danışmanlığı

12

Açık Erişim

19
BM Sürdürülebilir Kalkınma Amaçları