Published journal articles indexed by SCI, SSCI, and AHCI
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
, vol.29, no.12, pp.1207-1211, 2019 (SCI-Expanded)
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
Turkish journal of haematology : official journal of Turkish Society of Haematology
, vol.34, no.4, pp.376-377, 2017 (SCI-Expanded)
Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, vol.26, no.11-12, pp.1149-1152, 2013 (SCI-Expanded)
Sleep study characteristics in patients with mucopolysaccharidosis
EUROPEAN RESPIRATORY JOURNAL
, vol.42, 2013 (SCI-Expanded)
Articles Published in Other Journals
MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ
Kocatepe Tıp Dergisi
, vol.23, no.3, pp.322-325, 2022 (Peer-Reviewed Journal)
PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS
Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi
, vol.28, no.4, pp.565-571, 2021 (Peer-Reviewed Journal)
L carnitine L propionyl carnitine and malondialdehyde levels of pediatric patients with solid tumor
JOURNAL OF PEDİATRİC SCİENCES
, vol.4, no.3, 2012 (Peer-Reviewed Journal)
Refereed Congress / Symposium Publications in Proceedings
3-O Metil Dopa ölçümü ile AADC eksikliği taraması
KBUD Kongre, Lab EXPO 2022, Antalya, Turkey, 03 October 2022
Lysosphingolipids in the screening of sphingolipidoses
360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Turkey, 04 October 2022
Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim
XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Turkey, 13 - 17 October 2021
Asemptomatik Transaminaz Yüksekliğinden Son Dönem Karaciğer Hasarına: Kalıtsal Safra Asit Sentez Bozuklukları
13. Ulusal Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Kongresi (Dijital Kongre), Turkey, 19 May 2021
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
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 April 2019
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
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
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
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
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
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
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
RAR2mutation in two siblingswith microcephaly,seizures and liver involvement
15 th MEMG, Beyrut, Lebanon, 29 November - 02 December 2018
Respiratory system involvement of 41 Mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels
15 th MEMG, Beyrut, 29 November - 02 December 2018
UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY
Gaucher Symphosium, İstanbul, Turkey, 21 - 22 October 2018
The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score
SSIEM, 4 - 07 September 2018
Glycogen storage disease type 9: Insidious onset,mild form
SSIEM, 4 - 07 September 2018
Respiratory system involvement of mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels
SSIEM, 4 - 07 September 2018
An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years
SSIEM, 4 - 07 September 2018
Determination of succinylacetone in dried blood spot: preliminary results of our laboratory
SSIEM, 4 - 07 September 2018
RENAL INVOLMENT IN FABRY DİSEASE
14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Greece, 9 - 11 February 2018
Screening ALPL Gene Differences byNext Generation Sequence Techonology inPatients Having Low ALP Levels
ICIEM, 5 - 08 September 2017
Renal Involvement in Fabry Disease
ICIEM, 5 - 08 September 2017
Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia
ICIEM, 5 - 08 September 2017
Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures
ICIEM, 5 - 08 September 2017
Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders
ICIEM, 5 - 08 September 2017
Niemann Pick type C diagnostic methods and survey: National Intervention-Free INSPECT registration study protocolpresentation
ICIEM 2017 13th International Congress of Inborn Errors of Metabolism, Brazil, 5 - 08 September 2017
Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017
Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis
13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 October 2016
Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients
13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 October 2016
Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccarıdosıs
13th MEMG Meeting, 28 ekim-30kasım 2016, Amman, Jordan, 28 - 30 October 2016
Could propionylcarnitine and free carnitinebe used as antioxidative markers in mucopolysaccaridosis
MEMG, 28 - 30 October 2016
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
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
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
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
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
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
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
BonemineradensityandvitaminDstatusininbornerrorsofmetabolism
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016
Pediatrik kanser hastalarında D vitamini düzeylerinin değerlendirilmesi
XIX. Ulusal Pediatrik Kanser Kongresi, İzmir, Turkey, 4 - 08 May 2016
Fabry Hastalarında Subklinik Sol Ventrikül Disfonksiyonunun Speckle Tracking Ekokardiyografi ile Değerlendirilmesi
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 14 - 17 April 2016
Is there any effect of acylcarnitines on proinflammatory process in obese children
SSIEM, 1 - 04 September 2015
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
Lysinuric protein intolerance An overlooked diagnosis
SSIEM Annual Symposium, 1 - 04 September 2015
A novel mutation for L 2 hydroxyglutaric aciduria in a 7 year old patient
SSIEM, 1 - 04 September 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 September 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, France, 1 - 04 September 2015
Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu
XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015
Apheresis inducible cytokine pattern change in children with homozygous familial hypercholesterolemia
14. International Congress of the world Apheresis society /İstanbul, 13 - 15 September 2012
Three siblings with ext1 CDG
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Switzerland, 30 August - 02 September 2011
Books & Book Chapters
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
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
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
Yoğurt ve Laktoz İntoleransı
in: YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editor, Matsis Matbaa, İstanbul, pp.107-1114, 2015