Metrics
Publication
126
Open Access
11
UN Sustainable Development Goals
Education
2011 - 2014
2011 - 2014Post Doctorate of Medicine
İstanbul University-Cerrahpaşa, Cerrahpasa Faculty of Medicine, Department of Internal Medicine, Turkey
2004 - 2009
2004 - 2009Expertise In Medicine
İstanbul University-Cerrahpaşa, Cerrahpasa Faculty of Medicine, Department of Internal Medicine, Turkey
1997 - 2003
1997 - 2003Undergraduate
Istanbul University, Istanbul Medical Faculty, Turkey
Foreign Languages
B2 Upper Intermediate
B2 Upper IntermediateEnglish
Research Areas
Avesis Research Areas:
Health Sciences
WoS Research Areas:
Pediatrics, Endocrinology & Metabolism, Clinical Medicine, Clinical Medicine (Med)
Scopus Research Areas:
Pediatrics, Perinatology and Child Health, Endocrinology
Research Areas Based on Academic Activities
Avesis Research Areas
WoS Research Areas
Scopus Research Areas
Academic Positions
2018 - Present
2018 - PresentAssociate Professor
İstanbul University-Cerrahpaşa, Cerrahpasa Faculty of Medicine, Department of Internal Medicine
Supervised Theses
in Progress
in ProgressExpertise In Medicine
Investigation of Serum Neopterin, Biopterin, Tryptophan and Kynurenine Levels in Fabry Patients
Kıykım E. (Advisor)
T.UÇAR(Student)
Articles
All (94)
SCI-E, SSCI, AHCI (73)
SCI-E, SSCI, AHCI, ESCI (81)
ESCI (4)
Scopus (85)
TRDizin (14)
Other Publications (3)
2026
20261. Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study
van Spronsen F., Peters H., Margvelashvili L., Agladze D., Schwartz I. V. D., Giżewska M., et al.
Genetics in Medicine , vol.28, no.4, 2026 (SCI-Expanded, Scopus)
2026
20262. Genomic Dissection of Pediatric Protein-Losing Enteropathy and Related Disorders: Clinical, Immunologic, and Therapeutic Insights
Sefer A. P., ERMAN B., BARIŞ S., Karakoc-Aydiner E., Aydogdu E. S., Cevahir S., et al.
Gastroenterology , vol.170, no.4, pp.821-825, 2026 (SCI-Expanded, Scopus)
2026
20263. Evaluation of Inflammatory Markers in Patients with Mucopolysaccharidosis Type IV
Uredi K., Cansever M., Isat E., KIYKIM E.
ACTA PAEDIATRICA , vol.115, 2026 (SCI-Expanded, Scopus)
2026
20264. Pediatric Case Series with Early-Onset Dystonia: Clinical Clues of Inherited Manganese Transporter Defects
Hopurcuoglu D., ZÜBARİOĞLU T., Akgun A., KIYKIM E., Yalcinkaya C., Iscan A., et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY , vol.29, no.1, pp.94-97, 2026 (SCI-Expanded, Scopus)
2026
20265. Can Folinic Acid Be a Treatment Option for Autism?
KIYKIM E.
TURKISH ARCHIVES OF PEDIATRICS , vol.61, no.1, pp.1-3, 2026 (ESCI, Scopus, TRDizin)
2025
20256. Determination of Biotinidase Enzyme Levels in Umbilical Cord Blood and Comparisons with Dried Blood Spot Testing in Newborns
Uzunyayla G., Zübarioğlu T., İşat E., Cansever M. Ş., Dinçer E., Zübarioğlu A. U., et al.
JOURNAL OF PEDIATRIC RESEARCH , vol.1, pp.1-6, 2025 (ESCI, TRDizin)
2025
20257. Clinical and Laboratory Evaluation of Cases with Familial Hypercholesterolemia: A Multicentre Study
Akgün A., Uzunyayla G., Gücüyener Özkan N., Zübarioğlu T., Bahar İster M., Ünal Uzun Ö., et al.
Dicle Tıp Dergisi , vol.52, no.2, pp.283-297, 2025 (TRDizin)
2025
20258. Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study
Babazade H., Zubarioglu T., Uygur E., Cansever M. S., KIYKIM E., Zeybek c. A.
MOLECULAR GENETICS AND METABOLISM REPORTS , vol.42, 2025 (SCI-Expanded, Scopus)
2024
20249. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
Muntau A. C., Longo N., EZGÜ F. S., Schwartz I. V. D., Lah M., Bratkovic D., et al.
LANCET , vol.404, no.10460, pp.1333-1345, 2024 (SCI-Expanded, Scopus)
2024
202410. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.
ZÜBARİOĞLU T., KIYKIM E., KÖSE E., EMİNOĞLU F. T., TEKE KISA P., Balcı M. C., et al.
Molecular genetics and metabolism , vol.142, no.2, pp.108493, 2024 (SCI-Expanded, Scopus)
2024
202411. Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease.
Uçar T., Cansever M. Ş., Isat E., Zubarioğlu T., Aktuğlu Zeybek A. Ç., Topçu B., et al.
Balkan medical journal
, vol.41, no.2, pp.113-120, 2024 (SCI-Expanded, Scopus)
2024
202412. A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature
HASTÜRK B. A., ÇINAR Ç., ZÜBARİOĞLU T., Tiryaki-Demir S., CANSEVER M. Ş., KIYKIM E., et al.
MOLECULAR SYNDROMOLOGY , vol.15, no.3, pp.232-239, 2024 (SCI-Expanded, Scopus)
2023
202313. Analysis of Biotinidase Activity in Serum by Digital Imaging Colorimetry Detection.
Destanoğlu O., Cansever M. Ş., İşat E., Zübarioğlu T., Aktuğlu Zeybek A. Ç., Kıykım E.
ACS omega , vol.8, no.42, pp.39796-39806, 2023 (SCI-Expanded, Scopus)
2023
202314. Autism Spectrum Disorder in Two Unrelated Patients with Homozygous Variants in Either ALG8 or ALG11
Uzunyayla-inci G., KIYKIM E., Zubarioglu T., YEŞİL SAYIN G., Zeybek C. A.
MOLECULAR SYNDROMOLOGY , vol.14, no.5, pp.428-432, 2023 (SCI-Expanded, Scopus)
2023
202315. Neopterin and tryptophan pathways in children with type 1 diabetes: isoxanthopteridine as a marker of endothelial dysfunction
EVLİYAOĞLU S. O., Ozer Y., KIYKIM E., CANSEVER M. Ş., TURAN H., BAYRAMOĞLU E., et al.
HORMONE RESEARCH IN PAEDIATRICS , pp.184-185, 2023 (SCI-Expanded, Scopus)
2023
202316. Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria.
Cansever M. Ş., Öztekin N., Kıykım E., Zübarioğlu T., Aktuğlu Zeybek A. Ç.
Journal of separation science
, vol.46, no.16, 2023 (SCI-Expanded, Scopus)
2023
202317. A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency
Uygur E., Aktuğlu Zeybek A. Ç., Aghalarov M., Cansever M. Ş., Kıykım E., Zübarioğlu T.
NUTRIENTS , vol.15, pp.3105-3115, 2023 (SCI-Expanded, Scopus)
2023
202318. Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.
Tin O., Zübarioğlu T., Cansever M. Ş., Kıykım E., Aktuğlu-Zeybek Ç.
Turkish archives of pediatrics , vol.58, no.4, pp.382-387, 2023 (ESCI, Scopus, TRDizin)
2023
202319. Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective.
Arslan N., Coker M., Gokcay G. F., Kiykim E., Onenli Mungan H. N., Ezgu F.
Frontiers in pediatrics , vol.11, pp.1113422, 2023 (SCI-Expanded, Scopus)
2023
202320. Auto brewery syndrome from the perspective of the neurologist
Ser M. H., Çalıkuşu F. Z., Erener N., Destanoğlu O., Kıykım E., Siva A.
JOURNAL OF FORENSIC AND LEGAL MEDICINE , vol.96, pp.1-4, 2023 (SCI-Expanded, Scopus)
2023
202321. BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.
Zubarioglu T., Dinc H. O., Hopurcuoglu D., Gulmez R., Uygur E., Yilmaz G., et al.
Frontiers in immunology
, vol.13, pp.1082192, 2023 (SCI-Expanded, Scopus)
2023
202322. Safety of COVID-19 vaccines in children with inborn errors of metabolism in terms of developing metabolic decompensation
ZÜBARİOĞLU T., ORAL CEBECİ S., HOPURCUOĞLU D., Uygur E., AHMADZADA S., Uzunyayla-Inci G., et al.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
, vol.59, no.1, pp.41-46, 2023 (SCI-Expanded, Scopus)
2023
202323. An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.
Zübarioğlu T., Kıykım E., Aktuğlu-Zeybek Ç.
Turkish archives of pediatrics , vol.58, no.1, pp.3-9, 2023 (ESCI, TRDizin)
2022
202224. The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection
KARACA C., DİNCER M. T., ÖZCAN Ş. G., Sarac B., AHMADZADA S., Alagoz S., et al.
ORPHANET JOURNAL OF RARE DISEASES
, vol.17, no.1, 2022 (SCI-Expanded, Scopus)
2022
202225. Evaluation of dynamic thiol/disulfide homeostasis in hereditary tyrosinemia type 1 patients
Aktuglu Zeybek A. Ç., Kiykim E., Neselioglu S., Iscan H. Z., Zubarioglu T., Cansever M. Ş., et al.
PEDIATRIC RESEARCH , vol.92, no.2, pp.474-479, 2022 (SCI-Expanded, Scopus)
2022
202226. Postural tremor in L-2-hydroxyglutaric aciduria is associated with cerebellar atrophy
Gündüz A., Aktuğlu Zeybek A. Ç., Çetinkaya Tezer D., Enver E. O., Zübarioğlu T., Kıykım E., et al.
NEUROLOGICAL SCIENCES , vol.43, no.3, pp.2051-2058, 2022 (SCI-Expanded)
2022
202227. The Impact of Telemedicine for Monitoring and Treatment of Phenylketonuria Patients on Metabolic Outcome During Coronavirus Disease-19 Outbreak
Zubarioglu T., Hopurcuoglu D., Uygur E., Ahmadzada S., Oge-Enver E., Isat E., et al.
TELEMEDICINE AND E-HEALTH
, vol.28, no.2, pp.258-265, 2022 (SCI-Expanded, Scopus)
2022
202228. Inborn errors of metabolism and COVID-19: Evaluation of the metabolic outcome.
Zubarioglu T., Hopurcuoglu D., Ahmadzada S., Uzunyayla-Inci G., Cansever M. Ş., Kiykim E., et al.
Pediatrics international : official journal of the Japan Pediatric Society
, vol.64, 2022 (SCI-Expanded)
2022
202229. Blood Pressure Variability in Fabry Disease Patients.
Dincer M. T., Ozcan Ş. G., İkitimur B., Kiykim E., Bakir A., Trabulus S., et al.
Nephron , vol.146, no.4, pp.343-350, 2022 (SCI-Expanded, Scopus)
2022
202230. Evaluation of plasma carnitine status in patients diagnosed with juvenile idiopathic arthritis
Aktuglu Zeybek A. Ç., Kiykim E., Barut K., Zubarioglu T., Cansever M. Ş., Kasapcopur Ö.
TURKISH JOURNAL OF MEDICAL SCIENCES
, vol.52, no.3, pp.724-729, 2022 (SCI-Expanded, Scopus, TRDizin)
2022
202231. Altered immune response in organic acidemia.
Altun İ., Kiykim A., Zubarioglu T., Burtecene N., Hopurcuoglu D., Topcu B., et al.
Pediatrics international : official journal of the Japan Pediatric Society , vol.64, no.1, 2022 (SCI-Expanded, Scopus)
2021
202132. Evaluation of the reasons for the microvascular changes in patients with Fabry disease using optic coherence tomography angiography.
Dogan C., Gonen B., Dincer M. T., Mergen B., Kiykim E., Bakir A., et al.
European journal of ophthalmology , vol.31, no.6, pp.3231-3237, 2021 (SCI-Expanded, Scopus)
2021
202133. Telemedicine Applications in a Tertiary Pediatric Hospital in Turkey During COVID-19 Pandemic
Aydemir S., Ocak S., Saygılı S. K., Hopurcuoğlu D., Haşlak F., Kıykım E., et al.
TELEMEDICINE AND E-HEALTH
, vol.27, no.10, pp.1180-1187, 2021 (SCI-Expanded, Scopus)
2021
202134. Reflex Decay Test Can Reveal Ear Involvement in Fabry Disease
Kiykim E., Kaya M., Dincer M. T., Bakir A., Alagoz S., Aktuglu Zeybek A. Ç., et al.
EAR AND HEARING , vol.42, no.5, pp.1351-1357, 2021 (SCI-Expanded, Scopus)
2021
202135. COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1
Zübarioğlu T., Ahmadzada S., Yalçınkaya C., Kıykım E., Aktuglu-Zeybek C.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, vol.34, no.12, pp.1611-1614, 2021 (SCI-Expanded)
2021
202136. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data
Molema F., Martinelli D., Hoerster F., Koelker S., Tangeraas T., de Koning B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.44, no.3, pp.593-605, 2021 (SCI-Expanded, Scopus)
2021
202137. Identifying and elucidating the roles of Y198N and Y204F mutations in the PAH enzyme through molecular dynamic simulations.
Aslan T., Yenenler-Kutlu A., Gerlevik U., Aktuglu Zeybek A. Ç., Kıykım E., Sezerman O. U., et al.
Journal of biomolecular structure & dynamics , vol.40, no.19, pp.9018-9029, 2021 (SCI-Expanded)
2021
202138. Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias
Kıykım E., Oguz O., Duman Ç., Zübarioğlu T., Cansever M. Ş., Aktuğlu Zeybek A. Ç.
MOLECULAR GENETICS AND METABOLISM REPORTS , vol.26, 2021 (SCI-Expanded)
2021
202139. HEREDİTER TİROZİNEMİ TİP 1 VE CANLI VERİCİLİ KARACİĞER NAKLİ: ZAMANLAMA - HASTA SEÇİMİ - KOMPLİKASYONLAR
ALİM A., DAL M. B., ERDOĞAN Y., KIYKIM E., GÜLER N., AKTUĞLU ZEYBEK A. Ç., et al.
TURKIYE KLINIKLERI PEDIATRI
, vol.30, no.2, pp.138-144, 2021 (Scopus, TRDizin)
2021
202140. Impact of sodium phenylbutyrate treatment in acute management of maple syrup urine disease attacks: A single-center experience
Zubarioglu T., Dede E., Cigdem H., Kiykim E., Cansever M. Ş., Aktuglu-Zeybek C.
Journal of Pediatric Endocrinology and Metabolism , vol.34, pp.121-126, 2021 (SCI-Expanded)
2021
202141. Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study
Oge Enver E., Hopurcuoglu D., Ahmadzada S., Zubarioglu T., Aktuglu Zeybek A. Ç., Kiykim E.
Journal of Pediatric Endocrinology and Metabolism
, vol.34, pp.103-107, 2021 (SCI-Expanded)
2020
202042. İdrarda Orotik Asit’in Temassız İletkenlik Dedektörü Kullanılarak Kapiler Elektroforez Yöntemi İle Hızlı Tayini
CANSEVER M. Ş., ÖZTEKİN N., ADIMCILAR V., ZÜBARİOĞLU T., KIYKIM E., AKTUĞLU ZEYBEK A. Ç.
SÜLEYMAN DEMIREL ÜNIVERSITESI FEN EDEBIYAT FAKÜLTESI FEN DERGISI = SÜLEYMAN DEMIREL UNIVERSITY FACULTY OF ARTS AND SCIENCE JOURNAL OF SCIENCE
, vol.15, no.2, pp.194-202, 2020 (TRDizin)
2020
202043. Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study.
Aktuglu Z., Gunduz A., Enver E. Ö., Tezen D., Kiykim E., Kızıltan M.
Parkinsonism & related disorders , vol.80, pp.12-14, 2020 (SCI-Expanded, Scopus)
2020
202044. Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria
Zübarioğlu T., Yalçınkaya C., Oruç Ç., Kıykım E., Cansever M. Ş., Gezdirici A., et al.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , vol.55, no.3, pp.290-298, 2020 (Peer-Reviewed Journal)
2020
202045. Rapid determination of L-2-hydoxyglutaric acid in urine samples by capillary electrophoresis with indirect UV detection
CANSEVER M. Ş., KALAYCIOĞLU Z., ZÜBARİOĞLU T., KIYKIM E., AKTUĞLU ZEYBEK A. Ç., BERKER F. B.
Namık Kemal Tıp Dergisi
, vol.8, no.2, pp.264-270, 2020 (TRDizin)
2020
202046. Mercury intoxication resembling pediatric rheumatic diseases: case series and literature review
Yildiz M., Adrovic A., Gurup A., Karabag Y., Ozer Y., Koker O., et al.
RHEUMATOLOGY INTERNATIONAL , vol.40, no.8, pp.1333-1342, 2020 (SCI-Expanded, Scopus)
2020
202047. Vitamin D levels in children and adolescents with autism
Sengenc E., KIYKIM E., Saltik S.
Journal of International Medical Research
, vol.48, no.7, 2020 (SCI-Expanded, Scopus)
2020
202048. Capillary electrophoresis with capacitively coupled contactless conductivity detection for the determination of urinary ethylmalonic acid for the diagnosis of ethylmalonic aciduria
Ozcelik S., Öztekin N., Kiykim E., Cansever M. Ş., Aktuglu-Zeybek A. Ç.
JOURNAL OF SEPARATION SCIENCE , vol.43, no.7, pp.1365-1371, 2020 (SCI-Expanded)
2020
202049. Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus
Kiykim E., Sahin S., Zubarioglu T., Barut K., Adrovic A., Cansever M. Ş., et al.
ARCHIVES OF RHEUMATOLOGY , vol.35, no.1, pp.7-12, 2020 (SCI-Expanded)
2019
201950. Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease
Bolukbasi S., Dogan C., Kiykim E., Cakir A., Erden B., Bayat A. H., et al.
INTERNATIONAL OPHTHALMOLOGY , vol.39, no.11, pp.2545-2552, 2019 (SCI-Expanded)
2019
201951. Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey
Zubarioglu T., Kiykim E., YEŞİL G., Demircioglu D., Cansever M. S., Yalcinkaya C., et al.
ACTA NEUROLOGICA BELGICA , vol.119, no.3, pp.343-350, 2019 (SCI-Expanded, Scopus)
2019
201952. Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis.
Zubarioglu T., Bilen I. P., Kiykim E., Dogan B. B., Enver E. O., Cansever M. S., et al.
Turk pediatri arsivi
, vol.54, no.2, pp.113-118, 2019 (Scopus, TRDizin)
2019
201953. Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children
Aygun F., Varol F., Aktuglu-Zeybek C., Kıykım E., Çam H.
CHILDREN-BASEL
, vol.6, no.4, 2019 (SCI-Expanded)
2019
201954. Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis
Cansever M. S., Zubarioglu T., Oruc C., Kiykim E., Gezdirici A., Neşelioğlu S., et al.
METABOLIC BRAIN DISEASE , vol.34, no.1, pp.283-288, 2019 (SCI-Expanded)
2019
201955. Treatment of maple syrup urine disease with high flow hemodialysis in a neonate
Aygun F., Kiykim E., Aktuglu-Zeybek C., Zubarioglu T., Cam H.
TURKISH JOURNAL OF PEDIATRICS
, vol.61, no.1, pp.107-110, 2019 (SCI-Expanded)
2018
201856. Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency
Ozdemir H., Bilgen H., Unkar Z., Kiykim E., MEMİŞOĞLU A., ÖZEK E.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.31, no.6, pp.693-695, 2018 (SCI-Expanded, Scopus)
2018
201857. Coagulation Disturbances in Patients with Argininemia
Kiykim E., Zubarioglu T., Cansever M. S., Celkan T., Haberle J., Zeybek A. C. A.
ACTA HAEMATOLOGICA
, vol.140, no.4, pp.221-225, 2018 (SCI-Expanded)
2017
201758. Evaluation of dynamic thiol/disulphide homeostasis as a novel indicator of oxidative stress in maple syrup urine disease patients under treatment
Zubarioglu T., Kiykim E., Cansever M. Ş., Neşelioğlu S., Aktuglu-Zeybek C., Erel Ö.
Metabolic Brain Disease , vol.32, no.1, pp.179-184, 2017 (SCI-Expanded)
2017
201759. Successful hyperbaric oxygen treatment of gangrenous lesions due to systemic lupus erythematosus
Zeybek Ç. A., Aydın P. Ö. A., Kiykim E., Toklu A. S., Kasapçopur Ö.
Turkiye Klinikleri Pediatri
, vol.26, no.3, pp.103-106, 2017 (Scopus)
2017
201760. Hereditary Tyrosinemia Type 1 in Turkey.
Aktuglu-Zeybek A. Ç., Kıykım E., Cansever M. Ş.
Advances in experimental medicine and biology , vol.959, pp.157-172, 2017 (SCI-Expanded)
2016
201661. Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues
Zubarioglu T., Kiykim E., Cansever M. Ş., Zeybek C. A., Yalcinkaya C.
Acta Neurologica Belgica , vol.116, no.4, pp.671-673, 2016 (SCI-Expanded, Scopus)
2016
201662. Yenidoğan Döneminde Gelişen Siyah Kına Zehirlenmesi
KIYKIM E.
GENÇ PEDİATRİSTLER , vol.2, no.2, pp.15-17, 2016 (Peer-Reviewed Journal)
2016
201663. Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC
Adrovic A., Canpolat N., Caliskan S., Sever L., Kiykim E., Agbas A., et al.
Pediatrics International , vol.58, no.8, pp.763-765, 2016 (SCI-Expanded, Scopus)
2016
201664. Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F., Costantini A., Coles N., PEKKINEN M., Heon E., Siklar Z., et al.
JOURNAL OF BONE AND MINERAL RESEARCH
, vol.31, no.8, pp.1577-1585, 2016 (SCI-Expanded, Scopus)
2016
201665. Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation
Zubarioglu T., Kiykim E., Cansever M. Ş., Zeybek C. A.
Indian Journal of Pediatrics , vol.83, no.7, pp.754-755, 2016 (SCI-Expanded, Scopus)
2016
201666. Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.
Kiykim A., GARNCARZ W., Karakoc-Aydiner E., Ozen A., Kiykim E., YEŞİL G., et al.
Clinical immunology (Orlando, Fla.) , vol.165, pp.1-3, 2016 (SCI-Expanded, Scopus)
2016
201667. Inherited metabolic disorders in Turkish patients with autism spectrum disorders
Kiykim E., Zeybek C. A., Zubarioglu T., Cansever S., Yalcinkaya C., Soyucen E., et al.
Autism Research , vol.9, no.2, pp.217-223, 2016 (SCI-Expanded, SSCI, Scopus)
2016
201668. Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections
KIYKIM A., Simsek I. E., KIYKIM E., Karakoc-Aydiner E., BARIŞ S., ÖZEN A. O., et al.
Clinical and Experimental Neuroimmunology , vol.7, no.1, pp.79-82, 2016 (Scopus)
2016
201669. Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis.
KIYKIM E., BARUT K., CANSEVER M. Ş., Zeybek C., ZUBARIOGLU T., AYDIN A., et al.
JIMD reports
, vol.25, pp.21-24, 2016 (SCI-Expanded, Scopus)
2016
201670. A novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids Plazmada çok uzun zincirli yağ asidi düzeyleri normal olan bir X’e bağlı adrenolökodistrofi hastasında daha önce tanımlanmamış bir ABCD1 gen mutasyonu
Zubarioglu T., Kiykim E., Cansever M. Ş., Aktuglu Zeybek C.
Marmara Medical Journal
, vol.29, no.1, pp.45-47, 2016 (Scopus, TRDizin)
2016
201671. Screening of free carnitine and acylcarnitine status in children with familial mediterranean fever
Kiykim E., Aktuglu Zeybek A. C., Barut K., Zubarioglu T., Cansever M. Ş., ALSANCAK S., et al.
Archives of Rheumatology
, vol.31, no.2, pp.133-138, 2016 (SCI-Expanded, Scopus, TRDizin)
2016
201672. Plazmada çok uzun zincirli yağ asidi düzeyleri normal olan bir X’e bağlı adrenolökodistrofi hastasında daha önce tanımlanmamış bir ABCD1 gen mutasyonu
ZÜBARİOĞLU T., KIYKIM E., CANSEVER M. Ş., AKTUĞLU ZEYBEK A. Ç.
MARMARA MEDICAL JOURNAL , vol.29, no.1, pp.45-47, 2016 (Scopus, TRDizin)
2015
201573. Screening Inherited Metabolic Disorders in Patients with Familial Mediterranean Fever
Kiykim E., Zeybek A. Ç., Barut K., Zubarioglu T., Cansever M. Ş., Kasapcopur O.
JOURNAL OF PEDIATRIC RESEARCH
, vol.2, no.4, pp.201-205, 2015 (Peer-Reviewed Journal)
2015
201574. Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation
Zubarioglu T., Kiykim E., Zeybek C. A., Cansever M. S., Benbir G., Aydin A., et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY , vol.18, no.4, pp.471-474, 2015 (SCI-Expanded, Scopus)
2015
201575. Lessons from two cases: Is Fabry disease the correct diagnosis?
Kiykim E., Zeybek C. A. A., Zubarioglu T., AYDIN A.
BMJ Case Reports
, vol.2015, 2015 (Scopus)
2015
201576. Biotinidase deficiency mimicking primary immune deficiencies.
Kiykim E., Kiykim A., Cansever M. Ş., Aktuglu Zeybek C. A.
BMJ case reports , vol.2015, 2015 (Scopus)
2015
201577. Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modifification
Tekin B., Yucelten D., Zeybek C. A., Kiykim E., WEHNER M., BETZ R. C., et al.
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY , vol.81, no.3, pp.303-305, 2015 (SCI-Expanded, Scopus)
2015
201578. Çocukluk Çağında Hiperamonyemiye Yaklaşım
KIYKIM E., AYDIN A.
GENÇ PEDİATRİSTLER , vol.1, no.1, pp.29-33, 2015 (Peer-Reviewed Journal)
2015
201579. A novel aspartylglucosaminuria mutation in a patient with co-existence of Gaucher disease
Kiykim E., Zubarioglu T., GORUKMEZ O., Gunev S., Cansever M. Ş., Zeybek A. Ç.
Genetic Counseling , vol.26, no.4, pp.463-466, 2015 (SCI-Expanded, Scopus)
2015
201580. Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience
Zeybek A. Ç., Kiykim E., SOYUÇEN E., Cansever S., Altay S., Zubarioglu T., et al.
Pediatrics International
, vol.57, no.2, pp.281-289, 2015 (SCI-Expanded, Scopus)
2015
201581. Citrin deficiency: An infant incidentally detected by phenylketonuria screening with a novel mutation in SLC25A 13 gene
Zeybek A. Ç., Kiykim E., Zubarioglu T., Cansever M. Ş., CEYLANER S., Erkan T.
Genetic Counseling , vol.26, no.4, pp.409-413, 2015 (SCI-Expanded, Scopus)
2014
201482. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
HU L., DIEZ-FERNANDEZ C., RUEFENACHT V., Hismi B. O., Unal O., SOYUÇEN E., et al.
MOLECULAR GENETICS AND METABOLISM , vol.113, no.4, pp.267-273, 2014 (SCI-Expanded, Scopus)
2014
201483. What is your diagnosis?
SOYUCEN E., KIYKIM E., HAKYEMEZ TOPTAN H., ERDEMOĞLU Y., TOPAL GÖKNAR N., AYDIN A.
TURKDERM-ARCHIVES OF THE TURKISH DERMATOLOGY AND VENEROLOGY , pp.111-112, 2014 (SCI-Expanded, TRDizin)
2014
201484. A Case Of Atypical Hemolytic Uremic Syndrome Due To Cobalamin C Disorder Caused By A New Mutation In Mmachc Gene
Adrovic A., Canpolat N., Caliskan S., Kiykim E., BAUMGARTNER M. R., Agbas A., et al.
PEDIATRIC NEPHROLOGY , vol.29, no.9, pp.1834, 2014 (SCI-Expanded, Scopus)
2014
201485. Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency
Kiykim E., Zubarioglu T.
Indian pediatrics , vol.51, no.9, pp.755-756, 2014 (SCI-Expanded, Scopus)
2014
201486. Differences in the gut microbiota of healthy children and those with type 1 diabetes
SOYUÇEN E., Gulcan A., Aktuglu-Zeybek A. Ç., ONAL H., Kiykim E., Aydin A.
PEDIATRICS INTERNATIONAL
, vol.56, no.3, pp.336-343, 2014 (SCI-Expanded, Scopus)
2014
201487. What is your diagnosis?,Taniniz nedir?
Kıykım E.
Turkderm Turkish Archives of Dermatology and Venereology , vol.48, pp.111-112, 2014 (SCI-Expanded, Scopus)
2012
201288. EFFICIACY OF DICHLOROACETATE USAGE IN A TERM AND A PRETERM NEWBORN
Kiykim E., ZEYBEK A. Ç., SOYUCEN E., ERCAN E. T., CANSEVER M. S., ULUDAG D., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.35, 2012 (SCI-Expanded, Scopus)
2012
201289. ZINC/COPPER METABOLISM IN AUTISM
Kiykim E., SOYUCEN E., ZEYBEK A. Ç., CANSEVER M. Ş., AYDIN A.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.35, 2012 (SCI-Expanded, Scopus)
2012
201290. CLINICAL, LABORATORY FINDINGS AND OUTCOME OF 34 PATIENTS WITH TYROSINEMIA TYPE 1 (TT1): EXPERIENCE OF A SINGLE CENTER
Zeybek A. Ç., Cansever M. S., Soyucen E., Kiykim E., Altay S., Aydın A. F.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.35, 2012 (SCI-Expanded, Scopus)
2012
201291. A NOVEL MUTATION DESCRIBED IN TWO BROTHERS WITH METACHROMATIC LEUKODYSTROPHY
Kiykim E., Zeybek A. Ç., Soyucen E., Cansever M. S., Lacinel S., Aydin A.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.35, 2012 (SCI-Expanded, Scopus)
2012
201292. Fabry hastalığında gelişmekte olan tedavi yöntemleri
AKTUĞLU ZEYBEK A. Ç., KIYKIM E., AYDIN A.
TURKIYE KLINIKLERI PEDIATRI , vol.21, pp.42-50, 2012 (Scopus)
2011
201193. A CASE OF ACRODERMATITIS DYSMETABOLICA CAUSED BY METHYL MALONIC ACIDURIA
Soyucen E., Kiykim E., Kina S., Altay S., Cansever M. S., Agsoy T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , vol.34, 2011 (SCI-Expanded, Scopus)
2005
200594. Wilms Kemoterapisi ve Asit
KARAMAN S., CELKAN T. T., KURUĞOĞLU S., CANPOLAT A., KIYKIM E., ÖZKAN M. A., et al.
Turkish Journal of Oncology , vol.20, no.2, pp.79-83, 2005 (Peer-Reviewed Journal)
Papers Presented at Peer-Reviewed Scientific Conferences
2021
20211. THE IMPACT OF THE COVID-19 PANDEMIC ON MOOD STATUS AND TREATMENT ADHERENCE IN PATIENTS WITH FABRY DISEASE
DİNCER M. T., KARACA C., Sarac B., AHMADZADA S., Bakir A., Alagoz S., et al.
58th Congress of the European-Renal-Association (ERA)-European-Dialysis-and-Transplant-Association (EDTA), ELECTR NETWORK, 5 - 08 June 2021, vol.36, (Summary Text)
2012
20122. Geç tanınmış bir Gaucher Hastalığı disiplinler arası iletişimin önemi
KIYKIM E., AKTUĞLU ZEYBEK A. Ç., AYDIN A., KIYKIM A.
III. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi, Girne, Cyprus (Kktc), 26 - 29 April 2012, vol.4, pp.56, (Summary Text)
2020
20203. Multipl Açil-Koa Dehidrogenaz Eksikliği Hastalarının Klinik Özellikleri ve Tedavi Yanıtları: Tek Merkez Deneyimi
AKTUĞLU ZEYBEK A. Ç., BABAZADA K., CANSEVER M. Ş., ÖGE ENVER E., ZÜBARİOĞLU T., KIYKIM E., et al.
TPK 2020 Buluşması Pediatride Güncellemeler, Turkey, 25 - 29 October 2020, vol.52, pp.18, (Summary Text)
2020
20204. Ataksi ve Hiperamonyemi ile Başvuran Olguda Nadir Anomali. Abernethy Malformasyonu
BEŞER Ö. F., EMRE Ş., KARACA ŞAHİN M., AKTUĞLU ZEYBEK A. Ç., ÇOKUĞRAŞ A. F., KIYKIM E.
TPK 2020 Buluşması Pediatride Güncellemeler, İstanbul, Turkey, 25 - 29 October 2020, pp.104, (Summary Text)
2019
20195. Chemometric optimization of Malonic Acid Biomarkers in Urine by Capillary Electrophoresis
Özçelik S., ÖZTEKİN N., KIYKIM E., CANSEVER M. Ş., AKTUĞLU ZEYBEK A. Ç.
4th International Conference on New Trends in Chemometrics and Applications, 1 - 03 May 2019, (Full Text)
2019
20196. The Evaluation of Patients with Diagnosis of infantile, juvenile and late onset Pompe Disease: A retrospective Study.
BELDE DOĞAN B., ÖGE ENVER E., KIYKIM E., CANSEVER M. Ş., ZÜBARİOĞLU T., AKTUĞLU ZEYBEK A. Ç.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, 10 - 14 April 2019, (Full Text)
2019
20197. Immunological Evaluation of Patients with Organic Acidemia
USLU İ., AYDEMİR S., KIYKIM A., KIYKIM E., AKTUĞLU ZEYBEK A. Ç., ÇOKUĞRAŞ H. C.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, (Full Text)
2019
20198. With or Without A Diet? Ten Years Experience of a Tertiary Center on Bh4 Responsive Phenylketonuria Patients
ÖGE ENVER E., BELDE DOĞAN B., KIYKIM E., ZÜBARİOĞLU T., CANSEVER M. Ş., AKTUĞLU ZEYBEK A. Ç.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, Turkey, 10 - 14 April 2019, (Full Text)
2019
20199. Galactosemia Among Turkish Children: Presentation and Outcome from a Pediatric Metabolism Center
DOĞAN B. B., ÖGE ENVER E., KIYKIM E., CANSEVER M. Ş., ZÜBARİOĞLU T., UYGUR E., et al.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, (Full Text)
2019
201910. Clinical Presentation and Follow Up of Patients with Lysinuric Protein Intolerance
AKTUĞLU ZEYBEK A. Ç., BAYRAMLI Z., SHAFİROVA S., ÖGE ENVER E., BELDE DOĞAN B., ZÜBARİOĞLU T., et al.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, 10 - 14 April 2019, (Full Text)
2019
201911. An Alternative Method for Diagnosing Inborn Metabolic Diseases Capillary Electrophoresis
CANSEVER M. Ş., ÖZTEKİN N., KIYKIM E., ZÜBARİOĞLU T., AKTUĞLU ZEYBEK A. Ç.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Turkey, 10 - 14 April 2019, (Full Text)
2019
201912. Lysinuric Protein Intolerance in Differential Diagnosis of Hemophagocytic Lymphohistiocytosis
ZÜBARİOĞLU T., BEKTAŞ Ş., KIYKIM E., CANSEVER M. Ş., AKTUĞLU ZEYBEK A. Ç.
INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRES, İstanbul, Turkey, 10 - 14 April 2019, (Summary Text)
2014
201413. A Case Of Atypical Hemolytic Uremic Syndrome Due To Cobalamin C Disorder Caused By A New Mutation in MMACHC Gene
Adrovic A., CANPOLAT N., ÇALIŞKAN S., KIYKIM E., BAUMGARTNER M. R., AĞBAŞ A., et al.
The 47th ESPN Congress, Porto, Portugal, 18 - 20 September 2014, vol.29, pp.1649-1867, (Full Text)
Books
2022
20221. Doğumsal Metabolizma Hastalıkları
AHMADZADA S., DURU G., HOPURCUOĞLU D., ZÜBARİOĞLU T., KIYKIM E., AKTUĞLU ZEYBEK A. Ç.
in: Current Tanı ve Tedavi Pediatri, MEHMET YILDIZ, FATİH HAŞLAK, ÖZGÜR KASAPÇOPUR, Editor, İSTANBUL TIP YAYINEVİ, pp.1055-1080, 2022
2022
20222. Lizozom Çalışma Bozuklukları
KIYKIM E., AKTUĞLU ZEYBEK A. Ç.
in: İzmir Dr. Behçet Uz Çocuk Hastanesi Pediatri., Özkan, Behzat, Editor, ANKARA NOBEL TIP KİTAPEVİ, Ankara, pp.467-473, 2022
2022
20223. Bölüm 11: Sağlıklı Çocukta Beslenme Bozuklukları
HOPURCUOĞLU D., UYGUR E., AHMADZADA S., DURU G., ZÜBARİOĞLU T., KIYKIM E., et al.
in: Current Tanı ve Tedavi Pediatri, MEHMET YILDIZ, FATİH HAŞLAK, ÖZGÜR KASAPÇOPUR, Editor, İSTANBUL TIP YAYINEVİ, pp.276-304, 2022
2022
20224. Fenilketonüri
KIYKIM E., AKTUĞLU ZEYBEK A. Ç.
in: Yenidoğan Taramaları, Ergin, Hacer, Editor, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş., pp.10-14, 2022
2022
20225. Biyotinidaz Eksikliği
KIYKIM E., AKTUĞLU ZEYBEK A. Ç.
in: Yenidoğan Taramaları, Ergin, Hacer, Editor, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş., pp.15-19, 2022
2021
20216. DOĞUMSAL METABOLİZMA HASTALIKLARINDA BESLENME
AKTUĞLU ZEYBEK A. Ç., KIYKIM E.
in: Çocuklarda Kronik Hastalıklarda Beslenme, Fügen Çullu Çokuğraş, Editor, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş., Ankara, pp.56-62, 2021
2017
20177. Hereditary Tyrosinemia Type 1 in Turkey
Aktuğlu Zeybek A. Ç., Kıykım E., Cansever M. Ş.
in: Hereditary Tyrosinemia, Tanguay Robert M, Editor, Springer, London/Berlin , Quebec, pp.157-172, 2017
2017
20178. Hereditary Tyrosinemia Type 1 in Turkey.
AKTUĞLU ZEYBEK A. Ç., KIYKIM E., CANSEVER M. Ş.
in: Hereditary Tyrosinemia Pathogenesis, Screening and Management, Prof. Robert M. Tanguay, Editor, Springer, pp.157-172, 2017
2016
20169. Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis
KIYKIM E., BARUT K., CANSEVER M. S., ZUBARIOGLU T., AKTUGLU-ZEYBEK C., AYDIN A., et al.
in: JIMD REPORTS, Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, , Editor, Springer-Verlag , Berlin, pp.21-24, 2016
Funded Projects
2024 - 2025
2024 - 2025Mukopolisakkaridoz tip 4 hastalarında enflamatuvar belirteçlerin değerlendirilmesi
Project Supported by Higher Education Institutions , BAP PhD
KIYKIM E. (Executive), ÜREDİ K. B.
2023 - 2024
2023 - 2024Ataksi Telenjektazi Tanılı Hastalarda Enflamasyon Belirteçlerinin ve IFN İmzasının Değerlendirilmesi
Project Supported by Higher Education Institutions , BAP Research Project
Gemici Karaaslan H. B., Kıykım A., Kıykım E. (Executive), Fırtına S.
2023 - 2024
2023 - 2024Akut atak ile başvuran Ailevi Akdeniz Ateşi tanılı hastalarda Akut Hepatik Porfiri sıklığı araştırılması
TUBITAK Project , 1002 - Quick Support Program
Zübarioğlu T., Kıykım E., Aktuğlu Zeybek A. Ç., Cansever M. Ş., Musayeva G., Yıldız M., et al.
2022 - 2024
2022 - 2024Creation of an individualized exercise modelling in metabolic myopathy patients with special needs for contribution to sport activities
TUBITAK Project , 1001 - Program for Supporting Scientific and Technological Research Projects
(Project Abstract)
Zübarioğlu T. (Executive), Aktuğlu Zeybek A. Ç., Kıykım E., Cansever M. Ş., Metin G., Yakal S., et al.
2021 - 2023
2021 - 2023Üre Döngüsü Bozukluklarında İmmün Sistemin Değerlendirilmesi
Project Supported by Higher Education Institutions , BAP Research Project
ÇOKUĞRAŞ H. C. (Executive), AKTUĞLU ZEYBEK A. Ç., DEMİRCİ P., KIYKIM E., KIYKIM A., ZÜBARİOĞLU T., et al.
2021 - 2022
2021 - 2022OTİZM SPEKTRUM BOZUKLUKLARINDA FOLAT RESEPTÖR ANTİKORLARININ ARAŞTIRILMASI
Project Supported by Higher Education Institutions , BAP PhD
KIYKIM E. (Executive), ÖZDEMİR VİDİN Ö.
2021 - 2022
2021 - 2022Fabry Hastalarında Serum Neopterin Biopterin Triptofan ve Kinürenin Düzeylerinin Araştırılması
Project Supported by Higher Education Institutions , BAP PhD
KIYKIM E. (Executive), UÇAR T.
2019 - 2021
2019 - 2021Organik Asidemi Tanılı Olguların İmmünolojik Yönden Değerlendirilmesi
Project Supported by Higher Education Institutions , BAP Research Project
KIYKIM A. (Executive), ÇOKUĞRAŞ H. C., KIYKIM E., USLU İ., AKTUĞLU ZEYBEK A. Ç.
2019 - 2021
2019 - 2021Yeni doğanlarda kalıtsal metabolik hastalıkların teşhisinde kullanılan metabolitlerin kapiler elektroforez ile tayini
Project Supported by Higher Education Institutions , BAP Research Project
Cansever M. Ş., Öztekin N.(Executive), Aktuğlu Zeybek A. Ç., Kıykım E., Özçelik S.
Activities in Scientific Journals
2015 - Present
2015 - PresentTURKISH ARCHIVES OF PEDIATRICS
Editor