Prof. GÜRSEL BİBEROĞLU

Publication Network

Articles 40

1. Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes

Akyüz A., OKUR İ., TÜMER L., EMİNOĞLU F. T., KÖSE E., ERGİN F. B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , vol.184, no.9, 2025 (SCI-Expanded) Sustainable Development

2. 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 , vol.55, no.3, pp.585-594, 2025 (SCI-Expanded)

3. Diagnostic value of plasma lysosphingolipids levels in a Niemann-Pick disease type C patient with transient neonatal cholestasis

Bulut F. D., Bozbulut N. E., Ozalp O., DALGIÇ B., Mungan N. O., Ucar H. K., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.35, pp.681-685, 2022 (SCI-Expanded)

4. Combination of the histone deacetylase inhibitor valproic acid and stopcodon readthrough therapy produces improved alpha-galactosidase activity in Fabry patient-derived R227X fibroblasts

Dundar H., BİBEROĞLU G., İNCİ A., OKUR İ., Tumer L., Ezgu F. S.

EUROPEAN JOURNAL OF HUMAN GENETICS , vol.30, no.SUPPL 1, pp.558, 2022 (SCI-Expanded)

5. An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation

İNCİ A., OKUR İ., DEMİR E., BİBEROĞLU G., TÜMER L., SERDAROĞLU A., et al.

NEUROLOGY ASIA , vol.27, no.1, pp.199-202, 2022 (SCI-Expanded)

6. Synergistic action of the chemical chaperone 4-phenylbutyrate and the pharmacological chaperone migalastat on restoration of alpha-galactosidase activity of Fabry G258R mutation

DÜNDAR H., BİBEROĞLU G., İNCİ A., OKUR İ., TÜMER L., EZGÜ F. S.

MOLECULAR GENETICS AND METABOLISM , vol.135, no.2, 2022 (SCI-Expanded)

7. m.3010G>A Değişikliğinin Türk Populasyonunda Siklik Kusma Sendromuna Etkisi

ERGİN F. B., İNCİ A., OKUR İ., BİBEROĞLU G., TÜMER L., EZGÜ F. S.

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi , 2022 (Peer-Reviewed Journal)

8. PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS

İNCİ A., OLGAÇ A., GENÇ DERİN B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.

Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi , vol.28, no.4, pp.565-571, 2021 (Peer-Reviewed Journal)

9. Do cytokines play role in the pathogenesis of mucopolysaccharidosis

İNCİ A., OLGAÇ KILIÇKAYA M. A. B., YILMAZ DEMİRTAŞ C., OKUR İ., BİBEROĞLU G., EZGÜ F. S., et al.

Medicine Science , vol.10, no.4, pp.1492-1497, 2021 (Peer-Reviewed Journal)

10. The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

İNCİ A., Aktas E., Cengiz Ergin F. B., OKUR İ., BİBEROĞLU G., EZGÜ F. S., et al.

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION , vol.45, no.8, pp.1788-1792, 2021 (SCI-Expanded)

11. Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features

İNCİ A., Cengiz B., BİBEROĞLU G., OKUR İ., ARHAN E., ÖNER A. Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , vol.185, no.9, pp.2739-2747, 2021 (SCI-Expanded)

12. Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia

İNCİ A., Arslan B., OKUR İ., BİBEROĞLU G., ŞANLI M. E., ÖZSAYDI AKTAŞOĞLU E., et al.

INDIAN JOURNAL OF PEDIATRICS , vol.88, pp.723-0, 2021 (SCI-Expanded)

13. A CASE OF GLYCOGEN STORAGE DISEASE TYPE 1a MIMICKING FAMILIAL CHYLOMICRONEMIA SYNDROME

Olgac A., OKUR İ., BİBEROĞLU G., EZGÜ F. S., TÜMER L.

BALKAN JOURNAL OF MEDICAL GENETICS , vol.24, no.1, pp.103-105, 2021 (SCI-Expanded)

14. Autism: Screening of inborn errors of metabolism and unexpected results

İnci A., Özaslan A., Okur İ., Biberoğlu G., Güney E., Ezgü F. S., et al.

AUTISM RESEARCH , vol.14, no.5, pp.887-896, 2021 (SCI-Expanded) Sustainable Development

15. The chemical chaperone 4-phenylbutyrate enhances alpha-galactosidase activity subsequent to stop-codon read-through therapy with triamterene in Fabry R227X fibroblasts

Dündar H., Biberoğlu G., İnci A., Işık Gönül İ., Okur İ., Tümer L., et al.

MOLECULAR GENETICS AND METABOLISM , vol.132, no.2, 2021 (SCI-Expanded)

16. Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

İNCİ A., ERGİN F. B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.34, no.6, pp.805-812, 2021 (SCI-Expanded)

17. The Relationship between Inflammation and Serum Estrogen, Testosterone, and DHEA-S Levels in Obstructive Coronary Artery Disease

Karaaslan O. C., ÜNLÜ S., TOPAL S., BİBEROĞLU G., Biberoglu K., ÇENGEL A.

GAZI MEDICAL JOURNAL , vol.32, no.2, pp.171-173, 2021 (ESCI)

18. Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

Olgac A., İNCİ A., OKUR İ., BİBEROĞLU G., Oguz D., EZGÜ F. S., et al.

ANNALS OF NUTRITION AND METABOLISM , vol.76, no.4, pp.233-241, 2020 (SCI-Expanded)

19. A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency

Olgac A., Kasapkara C. S., Kilic M., Derinkuyu B. E., Azapagasi E., Kesici S., et al.

ARCHIVOS ARGENTINOS DE PEDIATRIA , vol.118, no.6, 2020 (SCI-Expanded)

20. Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets

Olgac A., İNCİ A., OKUR İ., Ezgu F. S., BİBEROĞLU G., Turner L.

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN , vol.29, no.12, pp.1207-1211, 2019 (SCI-Expanded)

21. A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase

Kilic M., Kasapkara Ç. S., Kilavuz S., Mungan N. O., BİBEROĞLU G.

METABOLIC BRAIN DISEASE , vol.34, no.2, pp.495-503, 2019 (SCI-Expanded)

22. High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease.

Koca S., TÜMER L., OKUR İ., ERTEN Y., Bakkaloglu S. A., BİBEROĞLU G., et al.

Gene , vol.687, pp.280-288, 2019 (SCI-Expanded)

23. "Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Olgac A., TÜMER L., Ceylaner S., BİBEROĞLU G., Hasanoglu A.

JOURNAL OF PEDIATRIC RESEARCH , vol.5, no.1, pp.47-50, 2018 (ESCI)

24. Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

NUR B., MIHÇI E., Pepe S., BİBEROĞLU G., EZGÜ F. S., Ballabio A., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.56, no.4, pp.418-422, 2014 (SCI-Expanded)

25. Vitamin A status and factors associated in healthy school-age children

VURALLI KARAOĞLAN D., TÜMER L., Hasanoglu A., BİBEROĞLU G., PAŞAOĞLU H.

CLINICAL NUTRITION , vol.33, no.3, pp.509-512, 2014 (SCI-Expanded)

26. Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

TÜMER L., Kasapkara Ç. S., BİBEROĞLU G., Ezgu F. S., Hasanoglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.26, no.11-12, pp.1149-1152, 2013 (SCI-Expanded) Sustainable Development

27. Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

OKUR İ., Ezgu F. S., BİBEROĞLU G., Turner L., ERTEN Y., Isitman M., et al.

GENE , vol.527, no.1, pp.42-47, 2013 (SCI-Expanded)

28. Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I

Kasapkara Ç. S., TÜMER L., BİBEROĞLU G., Kasapkara A., Hasanoglu A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , vol.26, pp.427-431, 2013 (SCI-Expanded) Sustainable Development

29. Assessment of atherosclerosis risk due to the homocysteine-asymmetric dimethylarginine-nitric oxide cascade in children taking antiepileptic drugs

Emeksiz H. C., SERDAROĞLU A., BİBEROĞLU G., GÜLBAHAR Ö., ARHAN E., CANSU A., et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY , vol.22, no.2, pp.124-127, 2013 (SCI-Expanded)

30. The effect of zinc on ethanol-induced oxidative stress in rat liver

Caglar O. M., Bilgihan A., ÖZEL TÜRKCÜ Ü., BİBEROĞLU G., TAKE KAPLANOĞLU G.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI , vol.37, no.4, pp.437-444, 2012 (SCI-Expanded)

31. L carnitine L propionyl carnitine and malondialdehyde levels of pediatric patients with solid tumor

OKUR A., HASANOĞLU A., OĞUZ A., BİBEROĞLU G., ERTEM U., TÜMER L.

JOURNAL OF PEDİATRİC SCİENCES , vol.4, no.3, 2012 (Peer-Reviewed Journal)

32. Analysis of acylcarnitine levels by tandem mass spectrometry in epileptic children receiving valproate and oxcarbazepine

Cansu A., Serdaroğlu A., Biberoğlu G., Tümer L., Hırfanoğlu T., Ezgü F. S., et al.

EPILEPTIC DISORDERS , vol.13, no.4, pp.394-400, 2011 (SCI-Expanded, Scopus)

33. The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children

Hasanoglu A., OKUR İ., Oren A. C., BİBEROĞLU G., ÖZHAN OKTAR S., Eminoglu F. T., et al.

TURKISH JOURNAL OF PEDIATRICS , vol.53, no.5, pp.522-527, 2011 (SCI-Expanded)

34. Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

Eminoglu T. F., TÜMER L., OKUR İ., EZGÜ F. S., BİBEROĞLU G., Hasanoglu A.

FORENSIC SCIENCE INTERNATIONAL , vol.210, 2011 (SCI-Expanded)

35. N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Kasapkara Ç. S., EZGÜ F. S., OKUR İ., TÜMER L., BİBEROĞLU G., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS , vol.170, no.6, pp.799-801, 2011 (SCI-Expanded)

36. Carnosine supplementation protects rat brain tissue against ethanol-induced oxidative stress

ÖZEL TÜRKCÜ Ü., Bilgihan A., BİBEROĞLU G., Caglar O. M.

MOLECULAR AND CELLULAR BIOCHEMISTRY , vol.339, pp.55-61, 2010 (SCI-Expanded)

37. 3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family

Eminoglu F. T., Ozcelik A. A., OKUR İ., TÜMER L., BİBEROĞLU G., DEMİR E., et al.

JOURNAL OF CHILD NEUROLOGY , vol.24, no.4, pp.478-481, 2009 (SCI-Expanded)

38. Asymmetric dimethylarginine and coronary collateral vessel development

Kocaman S. A., ŞAHİNARSLAN A., BİBEROĞLU G., Hasanoglu A., Akyel A., Timurkaynak T., et al.

CORONARY ARTERY DISEASE , vol.19, no.7, pp.469-474, 2008 (SCI-Expanded)

39. Asymmetrical dimethylarginine level in atrial fibrillation

Cengel A., ŞAHİNARSLAN A., BİBEROĞLU G., Hasanoglu A., Tavil Y., Tulmac M., et al.

ACTA CARDIOLOGICA , vol.63, no.1, pp.33-37, 2008 (SCI-Expanded)

40. Analysis Of Acylcarnitine Profiles In Children With Idiopathic Epilepsy Using Valproic Acid

Hırfanoğlu T., Serdaroğlu A., Biberoğlu G., Tümer L., Cansu A., Gücüyener K., et al.

GAZI MEDICAL JOURNAL , vol.17, no.3, pp.0-159, 2006 (ESCI)

Papers Presented at Peer-Reviewed Scientific Conferences 59

1. Lizozomal Depo Hastalıklarında Tiyol/Disülfit ve İskemi Modifiye Albümin Durumunun Değerlendirilmesi

Olgac A., İNCİ A., OKUR İ., BİBEROĞLU G., Ezgü F. S., KASAPKARA Ç. S., et al.

XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Turkey, 28 April 2024, (Summary Text)

2. Pterin Profiling in Serum, Dry Blood Spot and Urine using LC-MS/MS in Patients withHyperphenylalaninemia

Öktem R. M., İnci A., Bayrak H., Demir F., Biberoğlu G., Mavis M. E., et al.

Annual Symposium 2023, Jerusalem, Yerushalayim, Israel, 29 August 2023, (Summary Text)

3. 3-O Metil Dopa ölçümü ile AADC eksikliği taraması

Öktem R. M., Biberoğlu G., İnci A., Okur İ., Ezgü F. S., Tümer L.

KBUD Kongre, Lab EXPO 2022, Antalya, Turkey, 03 October 2022, (Summary Text)

4. Lysosphingolipids in the screening of sphingolipidoses

Öktem R. M., İnci A., Biberoğlu G., Okur İ., Ezgü F. S., Tümer L.

360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Turkey, 04 October 2022, (Summary Text)

5. Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidaserecovery in gaucher disease fibroblasts resulting from homozygous p.L483P mutation

Kiliç A., BİBEROĞLU G., ÖKTEM R. M., İNCİ A., Aydogdu S., Udgu Isik B., et al.

SSIEM Annual Symposium, Germany, 30 August - 02 September 2022, no.1418955, (Full Text)

6. MPS 6 Hastalarında Klinik Bulgular, ERT önce ve Sonrası Olay Bazlı Değerlendirme

İNCİ A., OKUR İ., TÜMER L., BİBEROĞLU G., ÖKTEM R. M., EZGÜ F. S.

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 25 - 27 November 2021, (Summary Text)

7. İNFANTİL TİP POMPE HASTALIĞI ULUSAL KONSENSUS ÇALIŞMASI

Aktaşoğlu E., İNCİ A., OKUR İ., BİBEROĞLU G., ÖKTEM R. M., EZGÜ F. S., et al.

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 25 - 27 November 2021, (Summary Text)

8. Triamterene-induced suppression of R227X premature termination codon in Fabry disease

Dündar H., Udgu B., Biberoğlu G., Inci A., Ezgu F. S., Işık Gönül İ., et al.

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, United States Of America, 10 - 14 February 2020, vol.129, (Summary Text)

9. Benefficial effects of Modified Atkins Diet in Glygocen Storage Disorder Type IIIa

OLGAÇ KILIÇKAYA M. A. B., İNCİ A., OKUR İ., KASAPKARA Ç. S., BİBEROĞLU G., OĞUZ A. D., et al.

SSIEM Annual Symposium 2019, Rotterdam, Netherlands, 3 - 06 September 2019, (Summary Text)

10. Screening of twelve lysosomal storage diseases with LC-MS/MS in Gazi university hospital in Turkey: The firstresults of validation

BİBEROĞLU G., İNCİ A., DERİN B., OKUR İ., EZGÜ F. S., TÜMER L.

SSIEM, 3 - 06 September 2019

11. Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

OLGAÇ M. A. B., İNCİ A., OKUR İ., Kasapkara Ç. S., BİBEROĞLU G., OĞUZ A. D., et al.

SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 September 2019, (Summary Text)

12. Screening of Twelve Lysosomal Storage Diseases with LC-MS/MS in Gazi University Hospital: The First Results of Validation.

BİBEROĞLU G., İNCİ A., DERİN B., OKUR İ., EZGÜ F. S., TÜMER L.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019

13. Growth Hormone Treatment: Reverses Catabolic Process in Inborn Errors of Metabolism

İNCİ A., OKUR İ., AKKUZU E., DÖĞER E., BİBEROĞLU G., KALKAN G., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019, (Summary Text)

14. Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal storage Diseases?

ERGİN F. B., İNCİ A., BİBEROĞLU G., ÇİFTÇİ B., TOPÇU YÜCE A. B., TOKGÖZ D., et al.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Turkey, 10 - 14 April 2019, (Summary Text)

15. Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal storage Diseases

İNCİ A., OKUR İ., AKKUZU E., DÖĞER E., BİBEROĞLU G., KALKAN G., et al.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019, (Summary Text)

16. Respiratory system involvement of 41 Mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels

İNCİ A., OKUR İ., Yılmaz Demirtaş C., BİBEROĞLU G., ASLAN A. T., EZGÜ F. S., et al.

15 th MEMG, Beyrut, 29 November - 02 December 2018, (Full Text)

17. UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY

Akay Tayfun G., OKUR İ., BİBEROĞLU G., TÜMER L., İNCİ A., Küçükcongar A., et al.

Gaucher Symphosium, İstanbul, Turkey, 21 - 22 October 2018, (Full Text)

18. Respiratory system involvement of mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels

İNCİ A., OKUR İ., YILMAZ-DEMİRTAŞ C., BİBEROĞLU G., aslan A. T., EZGÜ F. S., et al.

SSIEM, 4 - 07 September 2018

19. Sphingolipidosis : phenotypic and genotyping spectrum of patients from a single centre experience

kılıç m., kasapkara Ç. S., kabataş e., yüksel d., aksoy a., BİBEROĞLU G.

SSIEM, 4 - 07 September 2018

20. Determination of succinylacetone in dried blood spot: preliminary results of our laboratory

BİBEROĞLU G., TÜMER L., OKUR İ., EZGÜ F. S., İNCİ A.

SSIEM, 4 - 07 September 2018, (Summary Text)

21. Glycogen storage disease type 9: Insidious onset,mild form

TÜMER L., İNCİ A., OKUR İ., BİBEROĞLU G., EZGÜ F. S.

SSIEM, 4 - 07 September 2018

22. The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score

OKUR İ., İNCİ A., bütün s., BİBEROĞLU G., EZGÜ F. S., TÜMER L.

SSIEM, 4 - 07 September 2018

23. A new case from Turkey with glutathione synthetase deficiency complicated by necrotizing enterocolitis

kasapkara Ç. S., dinlen f., çavdarlı b., OLGAÇ M. A. B., kiliç m., BİBEROĞLU G.

SSIEM, 4 - 07 September 2018

24. An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years

İNCİ A., BİBEROĞLU G., OKUR İ., TÜMER L., EZGÜ F. S.

SSIEM, 4 - 07 September 2018

25. The Relationship between Inflammation and Serum Estrogen, Testosterone, and Dhea-S Levels in Obstructive Coronary Artery Disease

ÇAKMAK KARAASLAN Ö., ÜNLÜ S., TOPAL S., BİBEROĞLU G., BİBEROĞLU Ö. K., ÇENGEL A.

14th Congress of Update in Cardiology and Cardiovascular Surgery, Antalya, Turkey, 5 - 08 April 2018, vol.121, pp.104-105, (Summary Text)

26. RENAL INVOLMENT IN FABRY DİSEASE

İNCİ A., BİBEROĞLU G., PAŞAOĞLU Ö. T., TÜMER L., PAŞAOĞLU H., EZGÜ F. S.

14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Greece, 9 - 11 February 2018, (Summary Text)