Doç. Dr. BURCU ÖZTÜRK HİŞMİ

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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)

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 , 2024 (SCI-Expanded)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)