BURCU ÖZTÜRK HİŞMİ


School of Medicine

Internal Medical Sciences

Department of Pediatrics

Education Information

2010 - 2013

2010 - 2013

Post Doctorate of Medicine

Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü, Turkey

2002 - 2008

2002 - 2008

Expertise In Medicine

Ankara University, Ankara Faculty Of Medıcıne, Pediatrics, Turkey

1996 - 2002

1996 - 2002

Under Graduate

Ankara University, Faculty Of Medıcıne, Turkey

Dissertations

2013

2013

Post Doctorate of Medicine

SİSTATYONİN BETA-SENTAZ EKSİKLİĞİNE BAĞLI HOMOSİSTİNÜRİ HASTALARINDA KLİNİK, BİYOKİMYASAL, MOLEKÜLER BULGULARIN BELGELENMESİ VE GENOTİP-FENOTİP İLİŞKİSİNİN ARAŞTIRILMASI

Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü

2008

2008

Expertise In Medicine

Çocuk nörolojisi pratiğinde baş ağrılarının sıklık, etyoloji, tedavi yaklaşımları ve izlemleri açısından değerlendirilmeleri

Ankara University, Ankara Faculty Of Medıcıne, Dahili Tıp Bilimleri

Research Areas

Health Sciences

Academic Titles / Tasks

2019 - Continues

2019 - Continues

Assistant Professor

Marmara University, School Of Medicine, Internal Medical Sciences

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

2021

2021

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, vol.64, no.5, 2021 (Journal Indexed in SCI) identifier identifier identifier

2019

2019

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, vol.42, no.6, pp.1176-1191, 2019 (Journal Indexed in SCI) identifier identifier identifier

2019

2019

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, vol.32, no.7, pp.675-681, 2019 (Journal Indexed in SCI) identifier identifier identifier

2019

2019

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, vol.32, no.3, pp.269-274, 2019 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

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, vol.38, no.5, pp.1033-1038, 2018 (Journal Indexed in SCI) identifier identifier identifier

2018

2018

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, vol.118, no.2, pp.309-312, 2018 (Journal Indexed in SCI) identifier identifier identifier

2017

2017

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, vol.30, no.6, pp.697-702, 2017 (Journal Indexed in SCI) identifier identifier identifier

2017

2017

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, vol.8, no.2, pp.178-180, 2017 (Journal Indexed in SCI) identifier identifier

2015

2015

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, vol.57, no.4, pp.388-393, 2015 (Journal Indexed in SCI) identifier identifier identifier

2015

2015

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, vol.57, no.3, pp.213-218, 2015 (Journal Indexed in SCI) identifier identifier identifier

2014

2014

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, vol.13, pp.33-36, 2014 (Journal Indexed in SCI) identifier identifier

2014

2014

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, vol.57, no.10, pp.596-601, 2014 (Journal Indexed in SCI) identifier identifier identifier

2013

2013

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, vol.28, no.11, pp.1505-1508, 2013 (Journal Indexed in SCI) identifier identifier identifier

2013

2013

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, vol.28, no.11, pp.1509-1512, 2013 (Journal Indexed in SCI) identifier identifier identifier

2012

2012

SEVERE AZOTEMIA AND HYPERNATREMIC DEHYDRATION IN AN INFANT WITH PHENYLKETONURIA

Unal O., DÜZOVA A., Hismi B. , DURSUN A., TOKATLI A., COŞKUN T., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2012

2012

ACUTE INTERMITTENT PORPHYRIA: STILL UNCALLED BY PHYSICIANS

Hismi B. , Tanriover M. D. , Unal O., Sener E., TEMUÇİN Ç. M. , SİVRİ H. S. , et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2012

2012

AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY

Yigit-Duran O., Unal O., GENÇ A., Hismi B. , Dursun A., Tokatli A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2012

2012

PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES

Hismi B. , TEKŞAM Ö., Unal O., Takci S., Ertugrul I., SİVRİ H. S. , et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2012

2012

A PATIENT WITH PYRUVATE CARBOXYLASE DEFICIENCY AND NEMALINE RODS ON MUSCLE BIOPSY

Unal O., Hismi B. , DURSUN A., TOKATLI A., COŞKUN T., Wibrand F., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

2012

2012

Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism.

Gokce M., Unal O., Hismi B. , Gumruk F., Coskun T., Balta G., et al.

Pediatric hematology and oncology, vol.29, no.1, pp.92-98, 2012 (Journal Indexed in SCI) identifier identifier identifier

2012

2012

A Rare Galactosemia Complication: Vitreous Hemorrhage

Takci S., KADAYIFÇILAR S., COŞKUN T., YİĞİT Ş., Hismi B.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2, vol.5, pp.89-93, 2012 (Journal Indexed in SCI) identifier identifier

2011

2011

HEMOPHAGOCYTOSIS IN THREE PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM

Gokce M., Unal O., Hismi B. , GÜMRÜK F., COŞKUN T., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.34, 2011 (Journal Indexed in SCI) identifier

2010

2010

GALACTOSEMIA IN A TURKISH POPULATION WITH A HIGH PREVALENCE OF Q188R MUTATION

Guzel A., ÖZGÜL R. K. , DÜNDAR H., COŞKUN T., SİVRİ H. S. , TOKATLI A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.33, 2010 (Journal Indexed in SCI) identifier

2010

2010

A NOVEL MUTATION IN BETA KETOTHIOLASE DEFICIENCY

Unal O., Hismi B. , KILIÇ M., DURSUN A., Kalkanoglu-Sivri H. S. , TOKATLI A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.33, 2010 (Journal Indexed in SCI) identifier

2010

2010

POLYNEUROPATHY AS THE MAIN PRESENTING SYMPTOM IN PDH DEFICIENCY

Unal O., Hismi B. , Kilie M., DURSUN A., Kalkanoglu-Sivri H. S. , TOKATLI A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, vol.33, 2010 (Journal Indexed in SCI) identifier

2010

2010

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci A., Erbek S., Price J., Huang M., Duman D., Cengiz F. B. , et al.

American Journal of Human Genetics, vol.86, no.5, pp.797-804, 2010 (Journal Indexed in SCI) identifier identifier identifier

2006

2006

Mechanical ventilation in children

Kendirli T., Kavaz A., Yalaki Z., Öztürk Hişmi B. , Derelli E., Ince E.

Turkish Journal of Pediatrics, vol.48, no.4, pp.323-327, 2006 (Journal Indexed in SCI) identifier identifier identifier

2006

2006

Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes

Hişmi B. , Yilmaz S. T. , Incesulu A., Tekin M.

International Journal of Pediatric Otorhinolaryngology, vol.70, no.10, pp.1687-1694, 2006 (Journal Indexed in SCI) identifier identifier identifier

2006

2006

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

Tekin M., Hişmi B. , Fitoz S., Yalçinkaya F., Ekim M., Kansu A., et al.

American Journal of Medical Genetics, Part A, vol.140, no.13, pp.1472-1475, 2006 (Journal Indexed in SCI) identifier identifier identifier

2005

2005

Seronegative spondyloarthropathy associated with Takaya-su's arteritis in a child

Acar B., Yalcinkaya F., Ozturk B. , Yuksel S., Ozcakar Z., Fitoz S., et al.

CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, vol.23, no.2, pp.278-279, 2005 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

2019

2019

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

Kumru B., Hismi B.

JOURNAL OF PEDIATRIC GENETICS, vol.8, no.3, pp.133-136, 2019 (Journal Indexed in ESCI) identifier identifier

2018

2018

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, vol.8, no.3, pp.239-242, 2018 (Journal Indexed in ESCI) identifier

2005

2005

A life-saving line in resuscitation and shock management of the critically ill child: intraosseous infusion

KENDİRLİ T., YALAKİ Z., ÖZTÜRK HİŞMİ B. , KAVAZ TUFAN A., OKULU E., İNCE E.

Ankara Üniversitesi Tıp Fakültesi Mecmuası, vol.58, no.4, pp.176-179, 2005 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

2020

2020

Evaluation of Clinical and Demographic Characteristics of Alkaptonuria Patients.

TEKE KISA P., ÖZTÜRK HİŞMİ B. , dorum s., Gülten Arslan z., ARSLAN N.

2. Uluslararası Dr. Behçet Uz Çocuk kongresi, İzmir, Turkey, 4 - 07 March 2020

2019

2019

CLINICAL AND DEMOGRAPHIC CHARACTERISTICS OF PATIENTS WITH OCHRONOTIC ARTHROPATHY

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

Annual European Congress of Rheumatology (EULAR), Madrid, Spain, 12 - 15 June 2019, vol.78, pp.1909-1910 identifier

2017

2017

Clinical-molecular features and outcome of 20 Turkish patients with urea cycle disorders.

KOR D., Şeker-Yılmaz B., BULUT F. D. , KILAVUZ S., SATAR M., HERGÜNER M. Ö. , et al.

13 th International Congress of Inborn Errors of Metabolism., Rio de Janeiro, Brazil, 5 - 08 September 2017

2017

2017

Mutations of phenylalanine hydroxylase gene detected in 536 patients from southeastern part of Turkey.

KILAVUZ S., CEYLANER G., BULUT F. D. , KOR D., Şeker-Yılmaz B., BİŞGİN A., et al.

13 th International Congress of Inborn Errors of Metabolism., Rio de Janeiro, Brazil, 5 - 08 September 2017

2017

2017

Tirozinemi tip-I tanılı hastalarımızın uzun dönem izlem sonuçları.

KOR D., Şeker-Yılmaz B., BULUT F. D. , KILAVUZ S., ÖZTÜRK HİŞMİ B. , BALLI H. T. , et al.

14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

2017

2017

Investigation of total oxidant status, antioxidant status and thiol/disulphide homeostasis in mucopolysaccharidosis type III patients

Hismi B. , Kumru B., Celik H., EREL Ö.

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, United States Of America, 13 - 17 February 2017, vol.120 identifier

Books & Book Chapters

2017

2017

Beslenme-Vitamin E

ÖZTÜRK HİŞMİ B.

in: Yurdakök Pediatri, H.Serap Sivri, Editor, Güneş Kitabevi, Ankara, pp.1547-1551, 2017

2017

2017

Kalıtsal Metabolik Hastalıklar - Diğer Aminoasit Metabolizması Bozuklukları

Kılıç M., ÖZTÜRK HİŞMİ B. , Ünal Ö., AYDIN H. İ.

in: Yurdakök Pediatri, Turgay Coşkun, Editor, Güneş Kitabevi, Ankara, pp.1617-1656, 2017

2017

2017

Kalıtsal Metabolizma Hastalıkları- Pürin ve Pirimidin Metabolizması Bozuklukları

ÖZTÜRK HİŞMİ B.

in: Yurdakök Pediatri, Turgay Coşkun, Editor, Güneş Kitabevi, Ankara, pp.1859-1869, 2017

2005

2005

Bebeklik ve Erken Çocukluk Döneminde Yaygın GelişimselBozukluk ve Otizm

ÖZTÜRK HİŞMİ B. , Öztürk Ertem İ.

in: Gelişimsel Pediatri, İlgi Ertem, Editor, Çocuk Sağlığı ve Hastalıkları Araştırma Vakfı, Ankara, pp.388-413, 2005

Scientific Refereeing

December 2019

December 2019

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Journal Indexed in SSCI

February 2019

February 2019

MOLECULAR GENETICS & GENOMIC MEDICINE

SCI Journal



Edit Congress and Symposium Activities

2020

2020

3.Nadir Hastalıklar Farkındalık Sempozyumu – UPNAM2020

Invited Speaker

İstanbul-Turkey

2020

2020

3.Nadir Hastalıklar Farkındalık Sempozyumu – UPNAM2020

Invited Speaker

İstanbul-Turkey

2020

2020

3.Nadir Hastalıklar Farkındalık Sempozyumu – UPNAM2020

Session Moderator

İstanbul-Turkey

2020

2020

7. Marmara Pediatri Kongresi

Invited Speaker

İstanbul-Turkey

2019

2019

Fenilketonüri Farkındalık Eğitimi-Üsküdar Üniversitesi Sağlık Bilimleri Fakültesi Beslenme ve Diyetetik Bölümü

Invited Speaker

İstanbul-Turkey

2017

2017

14. Ulusal Metabolizma Hastalıkları ve Beslenme Kongresi

Invited Speaker

Muğla-Turkey

2016

2016

12. Ulusal Tıbbi Genetik Kongresi

Invited Speaker

İzmir-Turkey

Scholarships

2018 - 2019

2018 - 2019

2219 Yurt Dışı Doktora Sonrası Araştırma Bursu

TUBITAK

Citations

Total Citations (WOS): 384

h-index (WOS): 10