Doç. Dr. BURCU ÖZTÜRK HİŞMİ

Yayın Ağı

Makaleler 80

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

ZUBARIOGLU T., YAKAL S., YEGİN F., UYGUR E., ŞAHİNKAYA T., DİNÇER Ş., et al.

Scientific Reports , cilt.15, sa.1, 2025 (SCI-Expanded)

2. 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)

3. Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations

Helvacioglu D., Canbaz A. T., Tekmenuray-Unal A., Ada Y., YAPICI Ö., Genc E., et al.

European Journal of Endocrinology , cilt.192, sa.5, 2025 (SCI-Expanded)

4. Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency

Hakkı Akbeyaz İ., ÜNVER O., ÖZTÜRK G., ÖZTÜRK HİŞMİ B., Ayaz A., AYDIN K., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.38, sa.2, ss.196-200, 2025 (SCI-Expanded)

5. Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.

Yalcin K., Uygun V., Ozturk Hismi B., Celen S., Ozturkmen S., Zhumatayev S., et al.

Bone marrow transplantation , cilt.60, ss.47-51, 2025 (SCI-Expanded)

6. 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)

7. Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease

Kisa P. T., ÖZTÜRK HİŞMİ B., KOCABEY M., Gulten Z. A., Huddam B., Ekinci S., et al.

American Journal of Medical Genetics, Part A , cilt.194, sa.7, 2024 (SCI-Expanded)

8. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals

Zubarioglu T., Kıykım E., Köse E., Eminoğlu F. T., Teke Kısa P., Balcı M. C., et al.

Molecular Genetics and Metabolism , cilt.142, sa.2, 2024 (SCI-Expanded)

9. BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Tangeraas T., Constante J. R., Backe P. H., Oyarzabal A., Neugebauer J., Weinhold N., et al.

BRAIN , cilt.146, sa.7, ss.3003-3013, 2023 (SCI-Expanded)

10. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Himmelreich N., Bertoldi M., Alfadhel M., Alghamdi M. A., Anikster Y., Bao X., et al.

Molecular Genetics and Metabolism , cilt.139, sa.3, 2023 (SCI-Expanded)

11. Management of acute metabolic crisis in TANGO2 deficiency: A case report

Yllmaz-Gümüş E., ELÇİOĞLU H. N., Genç E., Arlcl Ş., Öztürk G., Yaplcl Ö., et al.

Journal of Pediatric Endocrinology and Metabolism , 2023 (SCI-Expanded)

12. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

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

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

13. URINARY SYSTEM INVOLVEMENT IN MUCOPOLYSACCHARIDOSIS DISEASE: TWO CASES WITH CHRONIC KIDNEY DISEASE

Pul S., Cicek N., GÜNAL Ö., Gumus E. Y., ŞEKERCİ Ç. A., DEMİRCİ BODUR E., et al.

PEDIATRIC NEPHROLOGY , cilt.37, sa.11, ss.2950, 2022 (SCI-Expanded, Scopus)

14. Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa

Akin B. K., ÖZTÜRK HİŞMİ B., Daly A.

MOLECULAR GENETICS AND METABOLISM REPORTS , cilt.32, 2022 (SCI-Expanded)

15. Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia

Güven S., Gökçe İ., Alavanda C., Öztürk Hişmi B., Çiçek N., Bodur Demirci E., et al.

TURKISH ARCHIVES OF PEDIATRICS , cilt.57, sa.4, ss.432-440, 2022 (ESCI, TRDizin)

16. A surprising cause of proteinuria: Answers

DEMİR B. K., Kanik A., Kose M., ÖZTÜRK HİŞMİ B., Baran M.

PEDIATRIC NEPHROLOGY , cilt.37, ss.1033-1039, 2022 (SCI-Expanded)

17. A surprising cause of proteinuria: Questions

DEMİR B. K., Kanik A., Kose M., ÖZTÜRK HİŞMİ B., Baran M.

PEDIATRIC NEPHROLOGY , cilt.37, ss.1031-1032, 2022 (SCI-Expanded)

18. CHARACTERISTICS OF PATIENTS WITH DISTAL RENAL TUBULAR ACIDOSIS AND ITS ASSOCIATION WITH HYPERAMMONEMIA: A SINGLE-CENTER EXPERIENCE

Bodur E. D., Guven S., ÖZTÜRK HİŞMİ B., Cicek N., Sak M., Turkkan O. N., et al.

PEDIATRIC NEPHROLOGY , cilt.36, sa.10, ss.3428, 2021 (SCI-Expanded, Scopus)

19. Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.

Kısa P. T., Yildirim G. K., Hismi B., Dorum S., Kusbeci O. Y., Topak A., et al.

Metabolic brain disease , cilt.36, ss.1201-1211, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

20. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients

KISA P. T., Gunduz M., Dorum S., Uzun O. U., Cakar N. E., KILIÇ YILDIRIM G., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.5, 2021 (SCI-Expanded)

21. Diagnostic Yield of Neuroimaging and Electroencephalography in Children with Recurrent Headaches

ÖZTÜRK HİŞMİ B., Teber S., Ozkan M., Unal O., Deda G.

Journal of Pediatric Neurology , cilt.19, ss.76-82, 2021 (ESCI)

22. Inflammatory rheumatic diseases in patients with ochronotic arthropathy

Inel T. Y., Kisa P. T., Balci A., Uslu S., Arslan Z., Hismi B., et al.

MODERN RHEUMATOLOGY , cilt.31, sa.5, ss.1031-1037, 2021 (SCI-Expanded)

23. A Mortal Complication in a Case with Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

YAZICI H., CANDA E., Er E., Malbora B., Hismi B., Onay H., et al.

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI , cilt.11, sa.2, ss.198-201, 2021 (ESCI)

24. Erişkin başlangıçlı kalıtsal metabolik hastalıklar: Tek merkez deneyimi

ÖZTÜRK HİŞMİ B.

Pamukkale Medical Journal , cilt.14, sa.3, ss.692-705, 2021 (Hakemli Dergi)

25. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

Waisbren S. E., Stefanatos A. K., Kok T. M. Y., Ozturk-Hismi B.

Journal of Inherited Metabolic Disease , cilt.42, sa.6, ss.1176-1191, 2019 (SCI-Expanded)

26. Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

Kumru B., Hismi B.

JOURNAL OF PEDIATRIC GENETICS , cilt.8, sa.3, ss.133-136, 2019 (ESCI)

27. Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

Cagan A. Y., Baran M., ÖZTÜRK HİŞMİ B., Ozyilmaz B., Vardi K., Ozer K. O., et al.

Journal of Pediatric Genetics , 2019 (ESCI)

28. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

Teke Kisa P., Kose M., Unal O., Er E., Hismi B., Bulbul F. S., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.32, sa.7, ss.675-681, 2019 (SCI-Expanded)

29. Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients

Kumru B., Ozturk Hismi B., Kaplan D. S., Celik H.

Journal of Pediatric Endocrinology and Metabolism , cilt.32, sa.3, ss.269-274, 2019 (SCI-Expanded)

30. Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients

Kumru B., Kaplan D. S., Oztürk Hismi B., Celik H.

Cellular and Molecular Neurobiology , cilt.38, sa.5, ss.1033-1038, 2018 (SCI-Expanded)

31. An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy

Cavusoglu D., Hismi B., Dundar N. O., Oztekin O., Koc A., CANDA E., et al.

Acta Neurologica Belgica , cilt.118, sa.2, ss.309-312, 2018 (SCI-Expanded)

32. Association of esophageal atresia without fistula and methylmalonic acidemia: The first case in the literature

Sayan A., Mert M., Oztan M. O., Hismi B., Akbay S., Koyluoglu G.

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI , cilt.8, sa.3, ss.239-242, 2018 (ESCI)

33. Deoxyguanosine kinase deficiency: A report of four patients

Ünal Ö., Hişmi B., KILIÇ M., Gulsen H. H., COŞKUN T., Sivri S. H., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.30, sa.6, ss.697-702, 2017 (SCI-Expanded)

34. A late diagnosis of alkaptonuria in an elderly patient

Taşkıran E., Yaşar Taş M., Hışmi B., Demet İnce F., Ekmekçi S., Solakoğlu Kahraman D., et al.

European Geriatric Medicine , cilt.8, sa.2, ss.178-180, 2017 (SCI-Expanded)

35. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

Karaca M., ÖZGÜL R. K., Ünal Ö., Yücel-Yılmaz D., KILIÇ M., Hişmi B., et al.

European Journal of Pediatrics , cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded)

36. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

Ünal Ö., Köksal Özgül R., Yücel D., YALNIZOĞLU D., TOKATLI A., Serap Sivri H., et al.

Turkish Journal of Pediatrics , cilt.57, sa.4, ss.388-393, 2015 (SCI-Expanded)

37. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

Ünal Ö., Gökmen-Özel H., COŞKUN T., ÖZGÜL R. K., Yücel D., Hişmi B., et al.

Turkish Journal of Pediatrics , cilt.57, sa.3, ss.213-218, 2015 (SCI-Expanded)

38. Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

Şekeroʇlu H. T., Hismi B., KADAYIFÇILAR S., COŞKUN T.

Journal of AAPOS , cilt.19, sa.1, ss.80-82, 2015 (SCI-Expanded)

39. Severe vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: A challenge to differentiate from acute leukaemia

Belen B., Hismi B., KOÇAK Ü.

BMJ Case Reports , 2014 (Scopus)

40. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Karaca M., Hismi B., ÖZGÜL R. K., Karaca S., Yilmaz D. Y., COŞKUN T., et al.

Gene , cilt.534, sa.2, ss.197-203, 2014 (SCI-Expanded)

41. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

Unal O., COŞKUN T., ORHAN D., Tokatl A., DURSUN A., Hismi B., et al.

JIMD REPORTS, VOL 13 , cilt.13, ss.33-36, 2014 (SCI-Expanded)

42. 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., Rüfenacht V., Hismi B., Ünal Ö., Soyucen E., et al.

Molecular Genetics and Metabolism , cilt.113, sa.4, ss.267-273, 2014 (SCI-Expanded)

43. Phenotypic and genotypic spectrum of turkish patients with isovaleric acidemia

Ozgul R. K., Karaca M., Kilic M., Kucuk O., Yucel-Yilmaz D., Unal O., et al.

European Journal of Medical Genetics , cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded)

44. A patient with pyruvate carboxylase deficiency and nemaline rods on muscle biopsy

Unal O., ORHAN D., Ostergaard E., TOKATLI A., DURSUN A., Ozturk-Hismi B., et al.

Journal of Child Neurology , cilt.28, sa.11, ss.1505-1508, 2013 (SCI-Expanded)

45. Vanishing white matter with hepatomegaly and hypertriglyceridemia attacks

Unal O., Ozgen B., ORHAN D., TOKATLI A., Hismi B., DURSUN A., et al.

Journal of Child Neurology , cilt.28, sa.11, ss.1509-1512, 2013 (SCI-Expanded)

46. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance

Güzel-Ozantürk A., ÖZGÜL R. K., Ünal Ö., Hişmi B., Aydin H. i., Sivri S., et al.

Gene , cilt.521, sa.2, ss.293-295, 2013 (SCI-Expanded)