Doç. Dr. TANYEL ZÜBARİOĞLU

Yayın Ağı

Makaleler 84

1. Cerebrotendinous xanthomatosis and pregnancy: A multicenter study of maternal and neonatal outcomes with a focus on chenodeoxycholic acid treatment during gestation.

Zubarioglu T., Yalçın-Çakmaklı G., Yıldız Y., Bulut F. D., Kor D., Yıldız S., et al.

Journal of clinical lipidology , 2026 (SCI-Expanded, Scopus)

2. Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.

Musayeva G., İşat E., Yıldız M., Cansever M. Ş., Uğurlu S., Alkaya D. U., et al.

Orphanet journal of rare diseases , 2026 (SCI-Expanded, Scopus)

3. 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)

4. 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)

5. Addressing burnout, job satisfaction and quality of life in paediatricians: a comprehensive multi-dimensional analysis.

Eravsar A., Gülümser S. B., Poyraz E., Uygur A., Kaya H., Oral-Cebeci S., et al.

BMJ paediatrics open , cilt.9, sa.1, 2025 (SCI-Expanded, Scopus)

6. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

Molla G. K., Uzun Ö. Ü., Agakisili H. B., Genç E., Gülten Z. A., Yıldırım T., et al.

FRONTIERS IN NEUROLOGY , cilt.16, ss.1-11, 2025 (SCI-Expanded, Scopus)

7. EFFECT OF UNCOOKED CORNSTARCH TREATMENT ON METABOLIC CONTROL IN PATIENTS WITH HEPATIC GLYCOGEN STORAGE DISEASES

Akyol Yılmaz B., Yılmaz Akyüz E., Zübarioğlu T.

JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES , cilt.9, sa.3, ss.494-503, 2025 (ESCI, TRDizin)

8. 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)

9. Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathies.

Zubarioglu T., Yakal S., Yegin F., Uygur E., Şahinkaya T., Dinçer Ş., et al.

Scientific reports , cilt.15, sa.1, ss.26125, 2025 (SCI-Expanded, Scopus)

10. 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)

11. Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Response.

Zubarioglu T., Kadıoğlu-Yılmaz B., Köse E., Teke-Kısa P., Balcı M. C., Yazıcı H., et al.

Journal of inherited metabolic disease , cilt.48, sa.4, 2025 (SCI-Expanded, Scopus)

12. 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)

13. 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)

14. 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)

15. 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)

16. 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)

17. 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)

18. A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?

Islak C., Bağcılar Ö., Selçuk H. H., Saltık S., Korkmazer B., Zubarioğlu T., et al.

CLINICAL NEURORADIOLOGY , cilt.35, sa.1, ss.67-75, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

19. Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long-term outcomes.

Pınar E., Zubarioglu T., Babazade H., Çalışgan K., Cansever M. Ş., Kıykım E., et al.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.67, sa.1, 2025 (SCI-Expanded, Scopus)

20. Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Calisgan K., Aghakıshılı H. B., Soylu E. I., Col T. A., Cansever M. S., Zubarioglu T., et al.

Molecular syndromology , ss.1-7, 2025 (SCI-Expanded, Scopus)

21. 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)

22. 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

23. Through the Glass Ceiling: The Quest for Gender Equality in Academia

ZÜBARİOĞLU T.

Turkish Archives of Pediatrics , cilt.59, sa.4, ss.333-335, 2024 (ESCI, Scopus, TRDizin)

24. 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)

25. 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)

26. 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)

27. 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)

28. **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)

29. 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)

30. 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)

31. 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)

32. 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)

33. 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)

34. 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)

35. 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)

36. 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)

37. 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

38. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Seker Yilmaz B., Baruteau J., ARSLAN N., Aydin H. I., Barth M., Bozaci A. E., et al.

LIFE-BASEL , cilt.12, sa.11, 2022 (SCI-Expanded, Scopus)

39. 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)

40. 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)

41. 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)

42. 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

43. 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)

44. 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)

45. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Stelten B. M. L., Dotti M. T., Verrips A., ELİBOL B., Falik-Zaccai T. C., Hanman K., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.16, sa.1, 2021 (SCI-Expanded, Scopus)

46. 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

47. Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Ozkinay F., Emecen D. A., Kose M., Isik E., Bozaci A. E., Canda E., et al.

MOLECULAR GENETICS AND METABOLISM REPORTS , cilt.27, 2021 (SCI-Expanded, Scopus)

48. 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)

49. 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)

50. 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

51. Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy

Caglayan A. O., Yaghouti K., Kockaya T., Kemer D., Cankaya T., Ameziane N., et al.

JOURNAL OF NEUROGENETICS , cilt.35, sa.1, ss.23-28, 2021 (SCI-Expanded, Scopus)

52. 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)

53. 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)

54. 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)

55. Evaluation of QuantiFERON tuberculosis Gold In-Tube assay for diagnosis of active tuberculosis in children

Zubarioglu T., Bayraktar B., Dalgic N., SANCAR M., Cakir E., Togay A., et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH , cilt.56, sa.4, ss.581-585, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

56. 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)

57. A New Mutation in Diagnosis of Wolman Disease: Case Report

Cansever M. S., Aslan M., Zubarioglu T.

JOURNAL OF ACADEMIC RESEARCH IN MEDICINE-JAREM , cilt.9, sa.3, ss.150-152, 2019 (ESCI, TRDizin) Sürdürülebilir Kalkınma

58. 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)

59. 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)

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. 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)

62. Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation in SLC2A2 Gene Erken Dönemde Tanı Alan Bir Fanconi-Bickel Sendromu Olgusu ve SLC2A2 Geninde Yeni Bir Mutasyon

Celikboya E., Cansever M. Ş., Zubarioglu T., Yesil G., Akinci N.

Haseki Tip Bulteni , cilt.57, sa.3, ss.328-331, 2019 (Scopus, TRDizin)

63. 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)

64. 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

65. 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)

66. Nitisinone: A review

Aktuglu-Zeybek A. Ç., Zubarioglu T.

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

67. A Rare Leukoencephalopathy: Succinate Dehydrogenase Deficiency

Cetin O. E., Zubarioglu T., Yalcinkaya C.

TURKISH JOURNAL OF NEUROLOGY , cilt.23, sa.2, ss.70-72, 2017 (ESCI, Scopus, TRDizin)

68. 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)

69. 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)

70. 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)

71. 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)

72. 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)

73. 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)

74. 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)

75. 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)

76. 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)

77. 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)

78. 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)

79. 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)

80. 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)

81. 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

82. 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)

83. 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)

84. Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency

Kiykim E., Zubarioglu T.

Indian pediatrics , cilt.51, sa.9, ss.755-756, 2014 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 8

1. AİLESEL AKDENİZ ATEŞİ HASTALARINDA PTERİDİN METABOLİTLERİNİN HASTALIĞIN AKTİVASYONU VE TEDAVİ YANITIYLA OLAN İLİŞKİSİ

Çalışgan K., Aktuğlu Zeybek A. Ç., Kıykım E., Zübarioğlu T., Cansever M. Ş., İşat E., et al.

XVII. ULUSLARARASI KATILIMLI METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, Antalya, Türkiye, 28 Nisan - 02 Mayıs 2024, ss.55-56, (Tam Metin Bildiri)

2. 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, Türkiye, 25 - 29 Ekim 2020, cilt.52, ss.18, (Özet Bildiri)

3. 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 Nisan 2019, (Tam Metin Bildiri)

4. 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, Türkiye, 10 - 14 Nisan 2019, (Tam Metin Bildiri)

5. 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, Türkiye, 10 - 14 Nisan 2019, (Tam Metin Bildiri)

6. 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, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)

7. 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, Türkiye, 10 - 14 Nisan 2019, (Tam Metin Bildiri)

8. 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 Nisan 2019, (Tam Metin Bildiri)

Kitaplar 14

Metrikler

Yayın

111

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

416

H-İndeks (WoS)

Atıf (Scopus)

497

H-İndeks (Scopus)

Atıf (Scholar)

641

H-İndeks (Scholar)

Proje

Fikri Mülkiyet

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler