Eğitim Bilgileri
2009 - 2012
2009 - 2012Tıpta Yandal Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü, Türkiye
2004 - 2007
2004 - 2007Yüksek Lisans
Ankara Üniversitesi, Sağlık Bilimleri Fakültesi, Türkiye
2002 - 2004
2002 - 2004Tıpta Yandal Uzmanlık
Ankara Üniversitesi, Ankara Tıp Fakültesi, Türkiye
1996 - 2001
1996 - 2001Tıpta Uzmanlık
Ankara Üniversitesi, Ankara Tıp Fakültesi, Türkiye
Yabancı Diller
C1 İleri
C1 İleriİngilizce
Akademik Unvanlar / Görevler
2020 - Devam Ediyor
2020 - Devam EdiyorDoç. Dr.
Kocaeli Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri
SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
2024
2024Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Yılmaz B., Ceylan A. C., Gündüz M., Ünal Uzun Ö., Küçükcongar Yavaş A., Bilginer Gürbüz B., et al.
European journal of pediatrics
, cilt.183, sa.3, ss.1341-1351, 2024 (SCI-Expanded)
2023
2023A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene
Esen T. E., ÜNAL UZUN Ö., CEYLAN A. C.
MOLECULAR SYNDROMOLOGY
, cilt.14, ss.498-503, 2023 (SCI-Expanded)
2023
2023Difficult to think about but easy to treat: scurvy
Küçükçongar Yavaş A., Engin Erdal ., Çıtak Kurt A. N., Kurt T., Cankurt İ., Ünal Uzun Ö.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM , ss.1-4, 2023 (SCI-Expanded)
2023
2023Two cases of MEGDHEL syndrome diagnosed with hyperammonemia.
GK M., KAĞNICI M., GÜNLEMEZ A., Yeni Y., ÜNAL UZUN Ö.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM
, cilt.36, ss.203-206, 2023 (SCI-Expanded)
2022
2022Three-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)
2022
2022CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
Wilson M. P., Durin Z., Unal Ö., Ng B. G., Marrecau T., Keldermans L., et al.
Human molecular genetics
, cilt.31, ss.2571-2581, 2022 (SCI-Expanded)
2022
2022Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia
Oncel I., Yousefi M., İNCİ A., ARSLAN GÜLTEN Z., TEKE KISA P., Karaca M., et al.
MEDICAL HYPOTHESES
, cilt.160, 2022 (SCI-Expanded)
2021
2021Frequency and status of depression and anxiety in mothers of children with inborn errors of metabolism with restricted diet, with and without risk of metabolic crises
Kisa P. T., ÜNAL UZUN Ö., Gunduz M., Bulbul F. S., KÖSE E., ARSLAN N.
ARCHIVES DE PEDIATRIE
, cilt.28, sa.8, ss.702-706, 2021 (SCI-Expanded)
2021
2021Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood
ÜNAL UZUN Ö., Cavdarli B., Karalok S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.63, sa.6, ss.1097-1102, 2021 (SCI-Expanded)
2021
2021Malonyl coenzyme A decarboxylase deficiency with a novel mutation
KASAPKARA Ç. S., Civelek Ürey B., CEYLAN A. F., Ünal Uzun Ö., ÇETİN İ. İ.
Cardiology in the Young
, cilt.31, ss.1535-1537, 2021 (SCI-Expanded)
2021
2021Molecular and clinical findings of Turkish patients with hereditary fructose intolerance
Gunduz M., ÜNAL UZUN Ö., Koç N., Ceylaner S., Özaydln E., Kasapkara Ç. S.
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, ss.1017-1022, 2021 (SCI-Expanded)
2021
2021Proteinuria and progressive kidney failure due to an inborn error of metabolism: Questions.
Uzun Ö., Cengiz N., Çavdarlı B., Bayrakçı U., Kiremitçi S., Yavaş A. K.
Pediatric nephrology (Berlin, Germany)
, cilt.36, ss.2053-2054, 2021 (SCI-Expanded)
2021
2021Proteinuria and progressive kidney failure due to an inborn error of metabolism: Answers.
Uzun Ö., Cengiz N., Çavdarlı B., Bayrakçı U., Kiremitçi S., Yavaş A. K.
Pediatric nephrology (Berlin, Germany)
, cilt.36, ss.2055-2058, 2021 (SCI-Expanded)
2021
2021Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
Kisa P. T., Gunduz M., Dorum S., Uzun Ö., Cakar N. E., Yildirim G. K., et al.
European journal of medical genetics
, cilt.64, ss.104197, 2021 (SCI-Expanded)
2020
2020Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases
Yagmur I. T., Uzun Ö., Yavas A. K., Celik I. K., Toyran M., Gunduz M., et al.
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY
, cilt.125, sa.4, ss.460-467, 2020 (SCI-Expanded)
2020
2020A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
Yavas A. K., Cavdarli B., Uzun Ö., Uncuoglu A., Gunduz M.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.33, sa.5, ss.665-669, 2020 (SCI-Expanded)
2020
2020A mysterious case with abdominal pain and syndrome of inappropriate anti-diuretic hormone secretion
Aksoy Ö. Y., Gündüz M., Ünal Ö., Bostancı F., Çaycı F. Ş., Bayrakcı U. S.
Turkish Journal of Pediatrics
, cilt.62, sa.3, ss.487-490, 2020 (SCI-Expanded)
2019
2019Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
Kisa P. T., Kose M., Unal Ö., Er E., Hismi B. O., Bulbul F. S., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.32, sa.7, ss.675-681, 2019 (SCI-Expanded)
2019
2019Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes
Gunduz M., Unal Ö., Kucukcongar-Yavas A., Kasapkara C.
TURKISH JOURNAL OF PEDIATRICS
, cilt.61, sa.2, ss.289-291, 2019 (SCI-Expanded)
2019
2019Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis
Degerliyurt A., Gunduz M., Ceylaner S., Unal Ö., Unal S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.61, sa.2, ss.261-266, 2019 (SCI-Expanded)
2019
2019A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency
Unal Ö., Ceylaner S., Akin R.
NEUROPEDIATRICS
, cilt.50, sa.1, ss.51-53, 2019 (SCI-Expanded)
2019
2019Successful sebelipase alfa desensitization in a pediatric patient
Celik I. K., Yavas A. K., Uzun Ö., Bilgin B. S., Misirlioglu E. D., Gunduz M.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
, cilt.7, sa.2, ss.732-733, 2019 (SCI-Expanded)
2017
2017Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas R. R., Iwanicka-Pronicka K., KALKAN UÇAR S., Alhaddad B., AlSayed M., Al-Owain M. A., et al.
ANNALS OF NEUROLOGY
, cilt.82, sa.6, ss.1004-1015, 2017 (SCI-Expanded)
2017
2017Identification of three novel mutations in fourteen patients with citrullinemia type 1
Kose E., Unal Ö., Bulbul S., Gunduz M., Haeberle J., Arslan N.
CLINICAL BIOCHEMISTRY
, cilt.50, sa.12, ss.686-689, 2017 (SCI-Expanded)
2017
2017Successful desensitization of elosulfase alfa-induced anaphylaxis in a pediatric patient with Morquio syndrome
Guvenir H., Misirlioglu E. D., Capanoglu M., Buyuktiryaki B., Unal Ö., Toyran M., et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
, cilt.5, sa.4, ss.1156-1157, 2017 (SCI-Expanded)
2017
2017Deoxyguanosine kinase deficiency: a report of four patients
Unal Ö., ÖZTÜRK HİŞMİ B., KILIÇ M., Gulsen H. H., COŞKUN T., Sivri S. H., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.30, sa.6, ss.697-702, 2017 (SCI-Expanded)
2016
2016Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Huemer M., Carvalho D. R., Brum J. M., Unal Ö., COŞKUN T., Weisfeld-Adams J. D., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.39, sa.3, ss.331-340, 2016 (SCI-Expanded)
2016
2016Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency
Gunduz M., Unal Ö., Kavurt S., Turk E., Mungan N. O.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.29, sa.4, ss.481-485, 2016 (SCI-Expanded)
2015
2015Depression and anxiety among parents of phenylketonuria children
Gunduz M., Arslan N., Unal Ö., Cakar S., Kuyum P., Bulbul S. F.
NEUROSCIENCES
, cilt.20, sa.4, ss.350-356, 2015 (SCI-Expanded)
2015
2015Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
Karaca M., ÖZGÜL R. K., Unal Ö., Yucel-Yilmaz D., KILIÇ M., ÖZTÜRK HİŞMİ B., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded)
2015
2015Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Ünal Uzun Ö., Özgül R. K., Yücel Yılmaz D., Yalnızoğlu D., Tokatlı A., Sivri H. S., et al.
Turkish Journal Of Pediatrics , cilt.57, sa.4, ss.388-393, 2015 (SCI-Expanded)
2015
2015Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four.
Ünal Ö., Gökmen-Özel H., Coşkun T., Özgül R., Yücel D., Hişmi B., et al.
The Turkish journal of pediatrics
, cilt.57, ss.213-8, 2015 (SCI-Expanded)
2014
2014Recurrence 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., Ruefenacht V., Hismi B. O., Unal Ö., SOYUÇEN E., et al.
MOLECULAR GENETICS AND METABOLISM
, cilt.113, sa.4, ss.267-273, 2014 (SCI-Expanded)
2014
2014Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
ÖZGÜL R. K., Karaca M., Kilic M., Kucuk O., Yucel-Yilmaz D., Unal Ö., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded)
2013
2013A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy
Unal Ö., ORHAN D., Ostergaard E., TOKATLI A., DURSUN A., ÖZTÜRK HİŞMİ B., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.28, sa.11, ss.1505-1508, 2013 (SCI-Expanded)
2013
2013Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks
Unal Ö., Ozgen B., ORHAN D., TOKATLI A., Hismi B. O., DURSUN A., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.28, sa.11, ss.1509-1512, 2013 (SCI-Expanded)
2013
2013Turkish Validation of the PICCOLO (Parenting Interactions with Children: Checklist of Observations Linked to Outcomes)
Bayoglu B., Unal Ö., Elibol F., KARABULUT E., Innocenti M. S.
INFANT MENTAL HEALTH JOURNAL
, cilt.34, sa.4, ss.330-338, 2013 (SSCI)
2013
2013Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance
Guzel-Ozanturk A., ÖZGÜL R. K., Unal Ö., ÖZTÜRK HİŞMİ B., Aydin H. I., Sivri S., et al.
GENE
, cilt.521, sa.2, ss.293-295, 2013 (SCI-Expanded)
2012
2012Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
Unal Ö., Oztürk-Hişmi B., Coşkun T., Tokatlı A., Dursun A., Sivri H.
The Turkish journal of pediatrics
, cilt.54, ss.409-12, 2012 (SCI-Expanded)
2012
2012Secondary Hemophagocytosis in 3 Patients With Organic Acidemia Involving Propionate Metabolism
Gokce M., Unal Ö., ÖZTÜRK HİŞMİ B., GÜMRÜK F., COŞKUN T., BALTA G., et al.
PEDIATRIC HEMATOLOGY AND ONCOLOGY
, cilt.29, sa.1, ss.92-98, 2012 (SCI-Expanded)
2009
2009EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders
Unal Ö., ÖZCAN Ö., Oner O., Akcakin M., Aysev A., Deda G.
WORLD JOURNAL OF PEDIATRICS
, cilt.5, sa.3, ss.196-200, 2009 (SCI-Expanded)
2009
2009Thrombophilic Risk Factors in Epileptic Children Treated with Valproic Acid
Uenal Ö., Deda G., Teber S., Ertem M., Akar N.
PEDIATRIC NEUROLOGY
, cilt.40, sa.2, ss.102-106, 2009 (SCI-Expanded)
2007
2007Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis
Unal Ö., Teber S., Kendirli T., Deda G., Anlar B.
PEDIATRICS INTERNATIONAL
, cilt.49, sa.6, ss.1007-1008, 2007 (SCI-Expanded)
2005
2005An unusual cause of hydrocephalus: aqueductal developmental venous anomaly
Yagmurlu B., Fitoz S., Atasoy C., Erden I., Deda G., Unal Ö.
EUROPEAN RADIOLOGY
, cilt.15, sa.6, ss.1159-1162, 2005 (SCI-Expanded)
2005
2005A case of psychosis with temporal lobe epilepsy: SPECT changes with treatment
Oner O., Unal Ö., Deda G.
PEDIATRIC NEUROLOGY
, cilt.32, sa.3, ss.197-200, 2005 (SCI-Expanded)
2003
2003