SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
, cilt.29, sa.12, ss.1207-1211, 2019 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ
Kocatepe Tıp Dergisi
, cilt.23, sa.3, ss.322-325, 2022 (Hakemli Dergi)
PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS
Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi
, cilt.28, sa.4, ss.565-571, 2021 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
3-O Metil Dopa ölçümü ile AADC eksikliği taraması
KBUD Kongre, Lab EXPO 2022, Antalya, Türkiye, 03 Ekim 2022
Cerebrotendinous Xanthomatosis (CTX): A treatable Neuro-Metabolic disease
8th Kuwait International Medical Genetics Conference, Kuveyt, Kuveyt, 11 Ekim 2022
Lysosphingolipids in the screening of sphingolipidoses
360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Türkiye, 04 Ekim 2022
Zor Olgularda Tanıya Ulaşmada Akılcı Kaboratuvar Yaklaşımı
KBUD Kongre &LAB Expo 2022, Antalya, Türkiye, 3 - 06 Ekim 2022
Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim
XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021
Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa
SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 Eylül 2019
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
Screening of Twelve Lysosomal Storage Diseases with LC-MS/MS in Gazi University Hospital: The First Results of Validation.
INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 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
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
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
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
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
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
RAR2mutation in two siblingswith microcephaly,seizures and liver involvement
15 th MEMG, Beyrut, Lübnan, 29 Kasım - 02 Aralık 2018
Respiratory system involvement of 41 Mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels
15 th MEMG, Beyrut, 29 Kasım - 02 Aralık 2018
UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY
Gaucher Symphosium, İstanbul, Türkiye, 21 - 22 Ekim 2018
Gaucher Disease and Pregnancy
Gaucher Symposium, İstanbul, Türkiye, 21 - 22 Ekim 2018
An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years
SSIEM, 4 - 07 Eylül 2018
Determination of succinylacetone in dried blood spot: preliminary results of our laboratory
SSIEM, 4 - 07 Eylül 2018
The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score
SSIEM, 4 - 07 Eylül 2018
Glycogen storage disease type 9: Insidious onset,mild form
SSIEM, 4 - 07 Eylül 2018
RENAL INVOLMENT IN FABRY DİSEASE
14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Yunanistan, 9 - 11 Şubat 2018
Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia
ICIEM, 5 - 08 Eylül 2017
Renal Involvement in Fabry Disease
ICIEM, 5 - 08 Eylül 2017
Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures
ICIEM, 5 - 08 Eylül 2017
Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders
ICIEM, 5 - 08 Eylül 2017
Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017
Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis
13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 Ekim 2016
Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients
13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 Ekim 2016
Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccarıdosıs
13th MEMG Meeting, 28 ekim-30kasım 2016, Amman, Jordan, 28 - 30 Ekim 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
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
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
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 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
BonemineradensityandvitaminDstatusininbornerrorsofmetabolism
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016
Fabry Hastalarında Subklinik Sol Ventrikül Disfonksiyonunun Speckle Tracking Ekokardiyografi ile Değerlendirilmesi
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 14 - 17 Nisan 2016
Is there any effect of acylcarnitines on proinflammatory process in obese children
SSIEM, 1 - 04 Eylül 2015
A completely new approach to the diagnosis of inbornerrors development of a 450 gene all metabolic disorders next generation sequencing panel
SSIEM Annual Symposium, 1 - 04 Eylül 2015
Patient with Niemann Pick type C presenting with lymphatic in volvement with Niemann Pick cells in the left jaw
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, Fransa, 1 - 04 Eylül 2015
Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu
XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015
Kitap & Kitap Bölümleri
Neonatal Dönemde Görülen Metabolik Hastalıklara Yaklaşım
Neonatal Nöroloji-Güncel Yaklaşımlar, Prof Dr Kıvılcım Gücüyener, Editör, Ortadoğu Reklam Tanıtım yayıncılık Turizm Eğitim, İnşaat, Sanayi ve Ticaret AŞ, Ankara, ss.123-128, 2022
Kalıtsal Metabolik Hastalıklara Yaklaşım
Kalıtsal Metabolik Hastalıklarda Beslenme Tedavisi, 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.19-27, 2021
Genetiğe Giriş
Kalıtsal Metabolik Hastalıklarda Beslenme Tedavisi, 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 Yayınları, ss.29-38, 2021
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