Doç. Dr. Özlem Ünal Uzun

 

Fakülte                        Tıp Fakültesi                            Ankara Üniversitesi     1996

Uzmanlık                    Çocuk Sağlığı ve Hastalıkları    Ankara Üniversitesi     2001

Yan dal uzmanlık         Çocuk Nörolojisi                      Ankara Üniversitesi     2004

Yüksek Lisans             Gelişimsel Pediatri                   Ankara Üniversitesi     2007

Yan dal Uzmanlık        Çocuk Metabolizma                 Hacettepe Üniversitesi 2012

 

 

Uluslararası hakemli dergilerde yayınlanan makaleler (SCI & SSCI)

 

  1. Gündüz M. Ünal Ö. Küçükçongar A. Kasapkara Ç. Alpha methy acyl CoA racemase (AMACR) deficiency: Diagnosis with Isolated Elevated Liver Enzymes. The Turkish Journal of Pediatrics 2018.  Basımda (SCI-E)

 

  1. Kose E, Unal O, Bulbul S, Gunduz M, Häberle J, Arslan N. Identification of three novel mutations in fourteen patients with citrullinemia type 1. Clin Biochem. 2017 Jan 27. [Epub ahead of print] (SCI)

 

  1. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, …Unal O,…,

Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017; 82(6):1004-1015. (SCI)

 

  1. Guvenir H, Dibek Misirlioglu E, Capanoglu M, Buyuktiryaki B, Unal O, Toyran M,

Kocabas CN. Successful desensitization of elosulfase alfa-induced anaphylaxis in a pediatric patient with Morquio syndrome. J Allergy Clin Immunol Pract. 2017;5(4):1156-1157. (SCI)

 

  1. Ünal Ö, Hişmi B, Kılıç M, Gülşen HH, Coşkun T, Sivri SH, Dursun A, Yüce A, Tokatlı A. Deoxyguanosine kinase deficiency: a report of four patients. J Pediatr Endocrinol Metab. 2017;30(6):697-702. (SCI)

 

  1. Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager

NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. J Inherit Metab Dis. 2016;39(3):331-40. (SCI)

 

  1. Gunduz M, Unal O. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations. Case Rep Pediatr. 2016;2016:5175709. (SCI)

 

  1. Gündüz M, Ünal Ö, Kavurt S, Türk E, Mungan NÖ. Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. J Pediatr Endocrinol Metab. 2016;29(4):481-5. (SCI)

 

  1. Unal O, Gokmen-Ozel H, Coskun T, Ozgul RK, Yucel D, Hismi B, Tokatli A, Dursun A, Sivri HS. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four. Turk J Pediatr. 2015;57:213-218.(SCI-E)

 

  1. Unal O, Ozgul RK, Yucel D, Yalnizoglu D, Tokatli A, Sivri HS, Hismi B, Coskun T, Dursun A. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. Turk J Pediatr. 2015;57:451-456.(SCI-E)

 

  1. Karaca M, Özgül RK, Ünal Ö, Yücel-Yılmaz D, Kılıç M, Hişmi B, Tokatlı A, Coşkun T, Dursun A, Sivri HS. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. Eur J Pediatr. 2015;174(8):1077-1084.(SCI)

 

  1. Gunduz M, Arslan N, Unal O, Cakar S, Kuyum P, Bulbul FS. Depression and anxiety among parents of phenylketonuria children. Neurosciences. 2015;20(4):7-13.(SCI-E)

 

13.Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BO, Unal O, Soyucen E, Coker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J. 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. Mol Genet Metab. 2014;113(4):267-273. (SCI)

 

14.Ozgul RK, Karaca M, Kilic M, Kucuk O, Yucel-Yilmaz D, Unal O, Hismi B, Aliefendioglu D, Sivri S, Tokatli A, Coskun T, Dursun A. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia. Eur J Med Genet. 2014;57(10):596-601. (SCI)

 

15.Güzel-Ozantürk A, Ozgül RK, Unal O, Hişmi B, Aydın HI, Sivri S, Tokatlı A, Coşkun T, Aksöz E, Dursun A. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance. Gene. 2013;521(2):293-295.(SCI)

 

  1. Unal O, Coşkun T, Orhan D, Tokatli A, Dursun A, Hişmi B, Ozyüncü O, Sivri SH. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance. JIMD Rep. 2013;13:33-36.

 

17.Bayoglu B, Unal O, Elibol F, Karabulut E, Innocenti M. Turkish Validation of PICCOLO (Parenting Interactions with Children: Checklist of Observations Linked To Outcomes). Infant Ment Health J. 2013;34(4),330-338. (SSCI)

 

  1. Unal O, Ozgen B, Orhan D, Tokatli A, Ozturk Hismi B, Dursun A, Coskun T, Kalkanoglu-Sivri HS. Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks. J Child Neurol. 2013;28(11):1509-1512. (SCI)

 

  1. Unal O, Hismi BO, Coskun T, Tokatli A, Dursun A, Sivri HS. Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow spectrum screening programs. Turk J Pediatr. 2012; 54: 409-412.(SCI-E)

 

20 Unal O, Orhan D, Ostergaard E, Tokatli A, Dursun A, Ozturk-Hismi B, Coskun T, Wibrand F, Kalkanoglu-Sivri HS. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy. J Child Neurol. 2013;28(11):1505-1508.(SCI)

 

21.Gokce M, Unal O, Hismi B, Gumruk F, Coskun T, Balta G, Unal S, Cetin M, Kalkanoglu-Sivri HS, Dursun A, Tokatlı A. Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. Pediatr Hematol Oncol. 2012;29(1):92-98. (SCI)

 

  1. Unal O, Deda G, Teber S, Ertem M, Akar N. Thrombophilic risk factors in epileptic children treated with valproic Acid. Pediatr Neurol. 2009;40(2):102-106. (SCI)

 

  1. Unal O, Deda G, Teber S, Ertem M, Akar N. Author reply. Re: Migraine, Valproic Acid, and Lipoprotein(a). Pediatr Neurol. 2009;41(1):78-79.(SCI)

 

  1. Unal O, Ozcan O, Oner O, Akcakin M, Aysev A, Deda G. EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders. World J Pediatr. 2009;5(3):196-200. (SCI-E)

 

  1. Unal O, Teber S, Kendirli T, Deda G, Anlar B. Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis. Pediatr Int. 2007;49(6):1007-1008. (SCI-E)

 

26.Oner O, Unal O, Deda G. A case of psychosis with temporal lobe epilepsy: SPECT changes with treatment. Pediatr Neurol. 2005;32(3):197-200. (SCI)

 

27.Yagmurlu B, Fitoz S, Atasoy C, Erden I, Deda G, Unal O. An unusual cause of hydrocephalus: aqueductal developmental venous anomaly. Eur Radiol. 2005;15(6):1159-1162. (SCI)

 

  1. Unal O, Berberoğlu M, Evliyaoğlu O, Adiyaman P, Aycan Z, Ocal G. Effects on bone mineral density of gonadotropin releasing hormone analogs used in the treatment of central precocious puberty. J Pediatr Endocrinol Metab. 2003;16(3):407-11. (SCI)

 

 

 

 

 

 

 

 

 

 

 

 

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