Prof. Dr. ÖZLEM ÜNAL UZUN

1. Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease

Molla G. K., Uzun Ö., Agakisili H. B., Genc E., Gulten Z. A., Yildirim T., et al.

FRONTIERS IN NEUROLOGY , cilt.16, 2025 (SCI-Expanded, Scopus)

2. Potential Association Between Nonketotic Hyperglycinemia and Extensive Mongolian Spots: A Novel Dermatological Observation-Case Report.

Serce Pehlevan Ö., Karatas S., Karakaya G., Uzun Ö., Gunlemez A.

Journal of paediatrics and child health , 2025 (SCI-Expanded, Scopus)

3. Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Roesch S., O'Sullivan A., Tschani S., Baghdasaryan A., Balasubramaniam S., Barić I., et al.

Molecular genetics and metabolism , cilt.146, sa.1-2, ss.109193, 2025 (SCI-Expanded, Scopus)

4. Ailevi Hiperkolesterolemili Vakaların Klinik ve Laboratuvar özelliklerinin Değerlendirilmesi: çok Merkezli Çalışma

akgün a., Uzunyayla G., Gücüyener N., Zubarioglu T., Ister M. B., Unal O., et al.

Dicle Tıp Dergisi , cilt.52, sa.2, ss.283-297, 2025 (TRDizin)

5. Cord blood metabolomic profiling in high risk newborns born to diabetic, obese, and overweight mothers: preliminary report

Ünal Uzun Ö., Eneş D., Çınar M., Günlemez Adugit A., Uçar B., Duranoğlu A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.38, sa.6, ss.577-589, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

6. Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients.

BAHAR İSTER M., Cinar M., CEYLANER S., Uzun Ö.

Molecular syndromology , cilt.16, sa.2, ss.180-186, 2025 (SCI-Expanded, Scopus)

7. NEONATAL RHABDOMYOLYSIS: A CASE REPORT AND REVIEW OF THE LITERATURE.

Çınar M., Bahar İster M., Eşgi M., Serçe Pehlevan Ö., Kara B., Ünal Ö.

Neuropediatrics , cilt.56, ss.208-212, 2025 (SCI-Expanded, Scopus)

8. 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, Scopus, TRDizin)

9. Evaluation 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, Scopus)

10. Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Mucopolysaccharidosis: Cross-Sectional Prospective Study Mukopolisakkaridoz Hastalarında Total Antioksidan Kapasite ve Total Oksidan Kapasite Ölçümleri Yapılarak Oksidatif Sürecin Araştırılması: Kesitsel Prospektif Çalışma

Kalkan E. Ş., Küçükçongar Yavaş A., ÜNAL UZUN Ö., Gündüz M.

Turkiye Klinikleri Pediatri , cilt.33, sa.1, ss.1-7, 2024 (Scopus, TRDizin)

11. A 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, Scopus)

12. Three-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, Scopus)

13. CAMLG-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, Scopus)

14. Investigating 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, Scopus)

15. Mitochondrial 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, Scopus, TRDizin)

16. Frequency 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, Scopus)

17. Malonyl 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, Scopus)

18. Evaluation of nutritional status in pediatric patients diagnosed with Covid-19 infection

Karakaya Molla G., Ünal Uzun Ö., Koç N., Özen Yeşil B., Bayhan G. İ.

Clinical Nutrition ESPEN , cilt.44, ss.424-428, 2021 (ESCI, Scopus)

19. Molecular 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, Scopus)

20. Proteinuria 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)

21. Proteinuria 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)

22. An altered mental status and hyperammonemia attack in an adolescent girl: Carnitine Palmitoyltransferase Type 1a (CPT1a) deficiency Ergenlik Döneminde Bir Kız Çocuğunda Bilinç Değişikliği ve Hiperamonemi Atağı: Karnitin Palmitoiltransferaz Tip 1a (CPT1A) Eksikliği

Ünal Uzun Ö., Küçükçongar Yavaş A., Gündüz M.

Turkiye Klinikleri Pediatri , cilt.30, sa.2, ss.165-168, 2021 (Scopus, TRDizin)

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

Ozturk-Hismi B., Teber S., Ozkan M., Unal Ö., Deda G.

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

24. Alkaptonuria 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, Scopus)

25. Management 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, Scopus)

26. A 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, Scopus)

27. A 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, Scopus, TRDizin) Sürdürülebilir Kalkınma

28. Clinical 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, Scopus)

29. Alpha 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, Scopus, TRDizin)

30. Neonatal 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, Scopus, TRDizin)

31. Successful 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, Scopus)

32. A 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, Scopus) Sürdürülebilir Kalkınma

33. Dietary Management of a Patient with Both Maple Syrup Urine Disease and Type I Diabetes

Gunduz M., Koc N., Unal Ö., Ucakturk S. A.

JOURNAL OF PEDIATRIC RESEARCH , cilt.5, sa.1, ss.44-46, 2018 (ESCI, TRDizin) Sürdürülebilir Kalkınma

34. Progressive 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, Scopus)

35. Identification 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, Scopus)

36. Successful 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, Scopus)

37. Deoxyguanosine 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, Scopus) Sürdürülebilir Kalkınma

38. Clinical 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, Scopus)

39. Clinical 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, Scopus)

40. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

Gunduz M., ÜNAL UZUN Ö.

CASE REPORTS IN PEDIATRICS , 2016 (ESCI)

41. Depression 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, Scopus)

42. Detection 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, Scopus)

43. Sapropterin 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, Scopus, TRDizin)

44. Glutaric aciduria type 2 presenting with acute respiratory failure in an adult

ERSOY ORTAÇ E., RAMA D., ÜNAL Ö., SİVRİ H. S., TOPELİ İSKİT A.

Respiratory Medicine Case Reports , cilt.15, ss.92-94, 2015 (Scopus)

45. 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., 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, Scopus)

51. Turkish 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, Scopus)

52. Molecular 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, Scopus)

53. Detection 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, Scopus)

66. Effects of bone mineral density of gonadotropin releasing hormone analogs used in the treatment of central precocious puberty

Ünal Ö., Berberoǧlu M., Evliyaoǧlu O., Adiyaman P., Aycan Z., Öcal G.

Journal of Pediatric Endocrinology and Metabolism , cilt.16, sa.3, ss.407-411, 2003 (SCI-Expanded, Scopus)

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (Sobiad)

H-İndeks (Sobiad)

Tez Danışmanlığı

Açık Erişim