Prof. Dr. AYŞE ÇİĞDEM AKTUĞLU ZEYBEK

Yayın Ağı

Makaleler 144

1. Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond

Calisgan K., Zubarioglu T., İsat E., Babazade H., Akca-Yesil S., Akbulut S., et al.

METABOLIC BRAIN DISEASE , cilt.41, sa.1, 2026 (SCI-Expanded, Scopus)

2. 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 , cilt.29, sa.1, ss.94-97, 2026 (SCI-Expanded, Scopus)

3. 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 , cilt.1, ss.1-6, 2025 (ESCI, TRDizin)

4. The clinical utility of short-term protein substitute use during intercurrent illness in BH4-responsive phenylketonuria.

Akbulut S., Uygur E., Zubarioglu T., Cansever M. Ş., Kiykim E., Zeybek Ç. A.

Molecular genetics and metabolism , cilt.145, sa.4, ss.109187, 2025 (SCI-Expanded, Scopus)

5. Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis.

Tiryaki Demir S., Yılmazşamlı T. D., Çalışgan K., Dedeli F. K., Babazade H., Dedeler M., et al.

Journal of clinical lipidology , cilt.19, ss.990-999, 2025 (SCI-Expanded, Scopus)

6. Evaluating the Humoral Immune Response to Sinovac-Coronavac in a Pediatric Patient with Propionic Acidemia: A Case Study.

Ergün İ., Dinç H. Ö., Burtecene N., Kıykım E., Aktuğlu-Zeybek Ç., Cansever M. Ş., et al.

Turkish archives of pediatrics , cilt.60, sa.4, ss.440-442, 2025 (ESCI, Scopus, TRDizin)

7. 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 , cilt.52, sa.2, ss.283-297, 2025 (TRDizin)

8. The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

Köse E., İnci A., Yazıcı H., Zübarioğlu T., Kılavuz S., Çıkı K., et al.

European journal of pediatrics , cilt.184, sa.6, ss.382, 2025 (SCI-Expanded, Scopus)

9. Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives.

Gemici Karaaslan B., Kiykim A., Burtecene N., Gokden M., Cansever M. S., Hopurcuoglu D., et al.

Journal of inherited metabolic disease , cilt.48, sa.2, 2025 (SCI-Expanded, Scopus)

10. 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 , cilt.42, 2025 (SCI-Expanded, Scopus)

11. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

Özsaydi Aktaşoğlu E., İNCİ A., ÖKTEM R. M., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.

Turkish Journal of Medical Sciences , cilt.55, sa.3, ss.585-594, 2025 (SCI-Expanded, Scopus, TRDizin)

12. Exploring congenital sucrase-isomaltase deficiency in autism spectrum disorder patients with irritable bowel syndrome symptoms: A prospective SI gene sequencing study.

Zubarioglu T., Ulgen D., Akca-Yesil S., Akbulut S., Onay H., Uzunyayla-Inci G., et al.

Autism research : official journal of the International Society for Autism Research , cilt.18, sa.1, ss.44-55, 2025 (SCI-Expanded, SSCI, Scopus)

13. Emerging trends in pediatric candidemia: mapping the rise in Candida parapsilosis incidence and antifungal resistance in Turkey

Önal P., Aygün F. D., Sever G. A., Eren B. A., Kes G., Aygün F. D., et al.

JOURNAL OF TROPICAL PEDIATRICS , cilt.70, sa.5, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

14. Pteridine and tryptophan pathways in children with type 1 diabetes: Isoxanthopterin as an indicator of endothelial dysfunction.

Özer Y., Cansever M. Ş., Turan H., Bayramoğlu E., Bingöl Aydın D., İşat E., et al.

Journal of pharmaceutical and biomedical analysis , cilt.243, ss.116072, 2024 (SCI-Expanded, Scopus)

15. 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 , cilt.142, sa.2, ss.108493, 2024 (SCI-Expanded, Scopus)

16. Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria in Turkey.

Karaca Sahin M., Aktuglu Zeybek A. Ç., Zubarioglu T., Cansever M. Ş., Kıykım E.

Nutrients , cilt.16, sa.10, 2024 (SCI-Expanded, Scopus)

17. Comparison of Cost Analysis in Patients with Tetrahydrobiopterin-Responsive and Non-Responsive Phenylketonuria

Sahin M. K., Aktuğlu Zeybek A. Ç., Zubarioglu T., Cansever M. S., Kıykım E.

NUTRIENTS , cilt.16, sa.10, ss.1444-1454, 2024 (SCI-Expanded, Scopus)

18. 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 , cilt.41, sa.2, ss.113-120, 2024 (SCI-Expanded, Scopus)

19. **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 , cilt.15, sa.3, ss.232-239, 2024 (SCI-Expanded, Scopus)

20. Urinary neopterin and biopterin indicate that inflammation has a role in autism spectrum disorder.

Oge-Enver E., Isat E., Cansever M. Ş., Zubarioglu T., Yilmaz G., Cebi M. N., et al.

Metabolic brain disease , cilt.38, sa.8, ss.2645-2651, 2023 (SCI-Expanded, Scopus)

21. Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone

Tarçın G., Ahmadzada S., Saygılı S. K., Kaya A., Aktuğlu Zeybek A. Ç., Ercan O.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.182, sa.12, ss.5447-5453, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

22. 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 , cilt.8, sa.42, ss.39796-39806, 2023 (SCI-Expanded, Scopus)

23. 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 , cilt.14, sa.5, ss.428-432, 2023 (SCI-Expanded, Scopus)

24. 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 , ss.184-185, 2023 (SCI-Expanded, Scopus)

25. 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 , cilt.46, sa.16, 2023 (SCI-Expanded, Scopus)

26. 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 , cilt.58, sa.4, ss.382-387, 2023 (ESCI, Scopus, TRDizin)

27. 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 , cilt.15, ss.3105-3115, 2023 (SCI-Expanded, Scopus)

28. 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 , cilt.13, ss.1082192, 2023 (SCI-Expanded, Scopus)

29. Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective

Akgun A., Gokcay G., Mungan N. O., Sivri H. S., TEZER H., AKTUĞLU ZEYBEK A. Ç., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.11, 2023 (SCI-Expanded, SSCI, Scopus)

30. An Overview of Acute Hepatic Porphyrias: Clinical Implications, Diagnostic Approaches, and Management Strategies.

Zübarioğlu T., Kıykım E., Aktuğlu-Zeybek Ç.

Turkish archives of pediatrics , cilt.58, sa.1, ss.3-9, 2023 (ESCI, TRDizin)

31. 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 , cilt.59, sa.1, ss.41-46, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

32. Child bride and forced marriages: an aspect of child abuse and neglect.

Pettoello-Mantovani M., Cokugras H., Ferrara P., Indrio F., Giardino I., Canpolat N., et al.

The Journal of pediatrics , cilt.250, 2022 (SCI-Expanded, Scopus)

33. Newborn Screening: From the Past to the Future

AKTUĞLU ZEYBEK A. Ç.

TURKISH ARCHIVES OF PEDIATRICS , cilt.57, sa.5, ss.473-475, 2022 (ESCI, Scopus, TRDizin)

34. 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 , cilt.92, sa.2, ss.474-479, 2022 (SCI-Expanded, Scopus)

35. 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 , cilt.43, sa.3, ss.2051-2058, 2022 (SCI-Expanded)

36. 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 , cilt.28, sa.2, ss.258-265, 2022 (SCI-Expanded, Scopus)

37. 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 , cilt.64, sa.1, 2022 (SCI-Expanded, Scopus)

38. 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 , cilt.52, sa.3, ss.724-729, 2022 (SCI-Expanded, Scopus, TRDizin)

39. 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 , cilt.64, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

40. 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 , cilt.27, sa.10, ss.1180-1187, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

41. 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 , cilt.42, sa.5, ss.1351-1357, 2021 (SCI-Expanded, Scopus)

42. 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 , cilt.34, sa.12, ss.1611-1614, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

43. 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 , cilt.44, sa.3, ss.593-605, 2021 (SCI-Expanded, Scopus)

44. 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 , cilt.40, sa.19, ss.9018-9029, 2021 (SCI-Expanded)

45. 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 , cilt.26, 2021 (SCI-Expanded)

46. 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 , cilt.30, sa.2, ss.138-144, 2021 (Scopus, TRDizin)

47. 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 , cilt.34, ss.121-126, 2021 (SCI-Expanded)

48. 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 , cilt.34, ss.103-107, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

49. 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 , cilt.80, ss.12-14, 2020 (SCI-Expanded, Scopus)

50. 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 , cilt.15, sa.2, ss.194-202, 2020 (TRDizin)

51. 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 , cilt.55, sa.3, ss.290-298, 2020 (Hakemli Dergi)

52. 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 , cilt.8, sa.2, ss.264-270, 2020 (TRDizin)

53. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

Van Rijt W. J., Jager E. A., Allersma D. P., Aktuğlu Zeybek A. Ç., Bhattacharya K., Debray F., et al.

GENETICS IN MEDICINE , cilt.22, sa.5, ss.908-916, 2020 (SCI-Expanded)

54. 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 , cilt.43, sa.7, ss.1365-1371, 2020 (SCI-Expanded)

55. 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 , cilt.35, sa.1, ss.7-12, 2020 (SCI-Expanded)

56. 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 , cilt.39, sa.11, ss.2545-2552, 2019 (SCI-Expanded)

57. 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 , cilt.119, sa.3, ss.343-350, 2019 (SCI-Expanded, Scopus)

58. 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 , cilt.54, sa.2, ss.113-118, 2019 (Scopus, TRDizin)

59. 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 , cilt.6, sa.4, 2019 (SCI-Expanded)

60. 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 , cilt.34, sa.1, ss.283-288, 2019 (SCI-Expanded)

61. The Role of Supportive Treatment in the Management of Hyperammonemia in Neonates and Infants

Demirkol D., Zeybek C. A., Karacabey B. N., Cesur Y., Ataman Y., Soysal E.

BLOOD PURIFICATION , cilt.48, sa.2, ss.150-157, 2019 (SCI-Expanded)

62. 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 , cilt.61, sa.1, ss.107-110, 2019 (SCI-Expanded)

63. Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Saral N. Y., Aksungar F. B., Aktuglu-Zeybek C., Coskun J., Demirelce O., Serteser M.

World Journal of Clinical Cases , cilt.6, sa.14, ss.786-790, 2018 (SCI-Expanded)

64. Çocuk Sağlığı Açısından D Vitaminine Güncel Bakış

AKTUĞLU ZEYBEK A. Ç.

Türkiye Klinikleri Pediatrik Bilimler , cilt.14, sa.4, ss.318-327, 2018 (Hakemli Dergi)

65. The impact of continuous renal replacement therapy for metabolic disorders in infants

Aygun F., Aygun D., Alp F. E., Zubanoglu T., Zeybek C., Cam H.

PEDIATRICS AND NEONATOLOGY , cilt.59, sa.1, ss.85-90, 2018 (SCI-Expanded)

66. Coagulation Disturbances in Patients with Argininemia

Kiykim E., Zubarioglu T., Cansever M. S., Celkan T., Haberle J., Zeybek A. C. A.

ACTA HAEMATOLOGICA , cilt.140, sa.4, ss.221-225, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma

67. 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 , cilt.32, sa.1, ss.179-184, 2017 (SCI-Expanded)

68. Nitisinone: A review

Aktuglu-Zeybek A. Ç., Zubarioglu T.

Orphan Drugs: Research and Reviews , cilt.7, ss.25-35, 2017 (Scopus)

69. Hereditary Tyrosinemia Type 1 in Turkey.

Aktuglu-Zeybek A. Ç., Kıykım E., Cansever M. Ş.

Advances in experimental medicine and biology , cilt.959, ss.157-172, 2017 (SCI-Expanded)

70. 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 , cilt.26, sa.3, ss.103-106, 2017 (Scopus)

71. 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 , cilt.116, sa.4, ss.671-673, 2016 (SCI-Expanded, Scopus)

72. 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 , cilt.83, sa.7, ss.754-755, 2016 (SCI-Expanded, Scopus)

73. Jüvenil İdiyopatik Artritli Hastalarda B12 Vitamini, Homosistein ve Oksidatif Stres İlişkisi

BİÇER N. Ç., AKSOYDAN E., ZEYBEK A. Ç., BARUT K., KASAPÇOPUR Ö.

Bakırköy Tıp Dergisi , cilt.12, sa.1, ss.1-10, 2016 (Scopus, TRDizin)

74. 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 , cilt.9, sa.2, ss.217-223, 2016 (SCI-Expanded, SSCI, Scopus)

75. Geç Tanı Alan Metil Malonik Asidemi Olgusu

AYGÜN F., ZÜBARİOĞLU T., AYGÜN F. D., AKTUĞLU ZEYBEK A. Ç., ÇAM H.

Çocuk Dergisi , cilt.15, sa.1, ss.38-40, 2016 (TRDizin)

76. Continuous Venovenous Hemodiafiltration in the Treatment of Maple Syrup Urine Disease.

DEMIRKOL D., ŞıK G., TOPAL N., ÇıTAK A., Zeybek Ç., TÜTEN A., et al.

Blood purification , cilt.42, ss.27-32, 2016 (SCI-Expanded, Scopus)

77. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

TUYSUZ B., PEHLIVAN D., ÖZKÖK A., JHANGIANI S., YALCINKAYA C., Zeybek Ç., et al.

JIMD reports , cilt.26, ss.7-12, 2016 (SCI-Expanded, Scopus)

78. Relationship between vitamin B12, homocysteine and oxidative stress in juvenile idiopathic arthritis

Bicer N. C., Aksoydan E., Zeybek C. A., Barut K., Kasapcopur O.

MEDICAL JOURNAL OF BAKIRKOY , cilt.12, sa.1, ss.1-10, 2016 (ESCI, Scopus, TRDizin)

79. 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 , cilt.29, sa.1, ss.45-47, 2016 (Scopus, TRDizin)

80. 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 , cilt.31, sa.2, ss.133-138, 2016 (SCI-Expanded, Scopus, TRDizin)

81. 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 , cilt.29, sa.1, ss.45-47, 2016 (Scopus, TRDizin)

82. 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 , cilt.25, ss.21-24, 2016 (SCI-Expanded, Scopus)

83. 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 , cilt.2, sa.4, ss.201-205, 2015 (Hakemli Dergi)

84. WHAT IS THE BEST VASCULAR ACCESS SITE FOR CONTINUOUS RENAL REPLACEMENT THERAPY DURING NEONATAL PERIOD?

Demirkol D., Buyukpastirmaci M., Karacabey B. N., Aygun F., AKTUĞLU ZEYBEK A. Ç.

PEDIATRIC NEPHROLOGY , cilt.30, sa.12, ss.2243, 2015 (SCI-Expanded, Scopus)

85. LIFE-SAVING TREATMENT FOR MEDICALLY REFRACTORY HYPERAMMONEMIA: CONTINUOUS RENAL REPLACEMENT THERAPY

Demirkol D., Karacabey B. N., AKTUĞLU ZEYBEK A. Ç., Cesur Y.

PEDIATRIC NEPHROLOGY , cilt.30, sa.12, ss.2242-2243, 2015 (SCI-Expanded, Scopus)

86. 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 , cilt.18, sa.4, ss.471-474, 2015 (SCI-Expanded, Scopus)

87. Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever.

Kıykım E., Aktuğlu Zeybek A. Ç., Barut K., Zübarioğlu T., Cansever M. Ş., Kasapçopur Ö.

The Journal of Pediatric Research , cilt.2, sa.4, ss.201-205, 2015 (ESCI) Sürdürülebilir Kalkınma

88. DETERMINATION OF FREE CARNITINE AND ACYL-CARNITINE STATUS OF PATIENTS WITH JUVENILE IDIOPATHIC ARTHRITIS

Kiykim E., Aktuglu-Zeybek A. Ç., Barut K., Zubarioglu T., Cansever M. Ş., Aydin A., et al.

ANNALS OF THE RHEUMATIC DISEASES , cilt.74, ss.1235, 2015 (SCI-Expanded, Scopus)

89. SCREENING OF FREE CARNITINE AND ACYL-CARNITINE STATUS IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER

Kiykim E., Barut K., Aktuglu-Zeybek A. Ç., Zubarioglu T., Cansever S., Aydin A., et al.

ANNALS OF THE RHEUMATIC DISEASES , cilt.74, ss.1236, 2015 (SCI-Expanded, Scopus)

90. Lessons from two cases: Is Fabry disease the correct diagnosis?

Kiykim E., Zeybek C. A. A., Zubarioglu T., AYDIN A.

BMJ Case Reports , cilt.2015, 2015 (Scopus)

91. Biotinidase deficiency mimicking primary immune deficiencies.

Kiykim E., Kiykim A., Cansever M. Ş., Aktuglu Zeybek C. A.

BMJ case reports , cilt.2015, 2015 (Scopus)

92. 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 , cilt.81, sa.3, ss.303-305, 2015 (SCI-Expanded, Scopus)

93. 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 , cilt.26, sa.4, ss.409-413, 2015 (SCI-Expanded, Scopus)

94. 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 , cilt.26, sa.4, ss.463-466, 2015 (SCI-Expanded, Scopus)

95. 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 , cilt.57, sa.2, ss.281-289, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

96. 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 , cilt.56, sa.3, ss.336-343, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

97. Bitterness of Glucose/Galactose: Novel Mutations in the SLC5A1 Gene

PODE-SHAKKED B., Reish O., Aktuglu-Zeybek C., KESSELMAN D., DEKEL B., BUJANOVER Y., et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION , cilt.58, sa.1, ss.57-60, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma