Publications & Works

Publication Network
Articles 42
All (42)
SCI-E, SSCI, AHCI (34)
SCI-E, SSCI, AHCI, ESCI (37)
ESCI (3)
Scopus (36)
TRDizin (7)
Other Publications (2)

1. Markers of Inflammation and Autoinflammation in Patients With Gaucher Disease: A Single-Center Observational Study

Akyüz A., Emecen Şanlı M., Aktaşoğlu E. Ö., GÖKALP S., BİBEROĞLU G., İNCİ A., et al.
Clinical Pediatrics , vol.65, no.2, pp.208-215, 2026 (SCI-Expanded, Scopus) identifier identifier identifier

2. 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, Scopus) Sustainable Development identifier identifier identifier

3. 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, 2025 (SCI-Expanded, Scopus, TRDizin) Sustainable Development identifier identifier identifier identifier

4. 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, Scopus) identifier identifier identifier

5. 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, Scopus) identifier

6. 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, Scopus) identifier identifier

7. 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, Scopus) identifier

8. 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 (TRDizin)

9. 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 (TRDizin) identifier

10. 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 (TRDizin) identifier

11. 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, Scopus) identifier identifier identifier

12. 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, Scopus) identifier identifier identifier

13. 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, Scopus) identifier identifier identifier

14. 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, Scopus) Creative Commons License identifier identifier identifier

15. 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 identifier identifier identifier

16. 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, Scopus) identifier

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, Scopus) identifier identifier

18. 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, Scopus) identifier identifier identifier

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

Olgac A., Kasapkara Ç. S., Kilic M., Derinkuyu B. E., Azapagasi E., Kesici S., et al.
ARCHIVOS ARGENTINOS DE PEDIATRIA , vol.118, no.6, 2020 (SCI-Expanded, Scopus) Creative Commons License Sustainable Development identifier identifier identifier

20. 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, Scopus) identifier identifier identifier

21. 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, Scopus) Creative Commons License identifier identifier identifier

22. 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, Scopus) identifier identifier identifier

23. 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, Scopus) identifier identifier identifier

24. "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, TRDizin) identifier

25. 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, Scopus) identifier identifier identifier

26. 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, Scopus) identifier identifier identifier

27. 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, Scopus) Sustainable Development identifier identifier identifier

28. 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, Scopus) identifier identifier identifier

29. 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, Scopus) Sustainable Development identifier identifier identifier

30. 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, Scopus) Creative Commons License identifier identifier identifier

31. Alfa Mannosidoz

KASAPKARA Ç. S., TÜMER L., BİBEROĞLU G., ÖZBEK M. N., HASANOĞLU A.
Lizozomal Depo Hastalıkları Dergisi , vol.4, no.1, pp.32-34, 2012 (Peer-Reviewed Journal)

32. 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)

33. 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, Scopus, TRDizin) Creative Commons License identifier identifier

34. 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) Creative Commons License identifier identifier identifier

35. 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, Scopus) identifier identifier identifier

36. 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, Scopus) identifier identifier identifier

37. 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, Scopus) identifier identifier identifier

38. 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, Scopus) identifier identifier identifier

39. 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, Scopus) identifier identifier identifier

40. 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, Scopus) identifier identifier identifier

41. 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, Scopus) identifier identifier identifier

42. 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.157-159, 2006 (ESCI, Scopus, TRDizin) Creative Commons License identifier identifier
Papers Presented at Peer-Reviewed Scientific Conferences 60

1. Comprehensive Screening of 450 Genes in 1152 Patients: Insights into Genetic Variability

ERGİN F. B., ÇİFTÇİ B., YÜCE B., ÖKTEM R. M., İNCİ A., OKUR İ., et al.
EUROPEAN HUMAN GENETICS CONFERENCE 2025, Milan, Italy, 24 - 27 May 2025, (Summary Text)

2. 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)

3. 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) Creative Commons License

4. 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)

5. 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)

6. 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)

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. 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)

9. 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) identifier

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. 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)

12. 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)

13. 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

14. 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)

15. 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)

16. 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)

17. 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)

18. 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)

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. 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

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. 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

24. 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

25. 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

26. 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)

27. 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)

28. Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia

İNCİ A., OKUR İ., OLGAÇ M. A. B., AKKUZU E., BİBEROĞLU G., EZGÜ F. S., et al.
ICIEM, 5 - 08 September 2017, (Summary Text)

29. Renal Involvement in Fabry Disease

İNCİ A., BİBEROĞLU G., OKUR İ., PAŞAOĞLU Ö. T., TÜMER L., PAŞAOĞLU H., et al.
ICIEM, 5 - 08 September 2017, (Summary Text)

30. Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures

İNCİ A., TÜMER L., OKUR İ., BİBEROĞLU G., EZGÜ F. S.
ICIEM, 5 - 08 September 2017, (Summary Text)

31. Screening ALPL Gene Differences byNext Generation Sequence Techonology inPatients Having Low ALP Levels

İNCİ A., EZGÜ F. S., topcu b., çiftci b., OKUR İ., BİBEROĞLU G., et al.
ICIEM, 5 - 08 September 2017, (Summary Text)

32. DiagnosticCapability ofNextGenerationDNA Sequencing With A 450 Gene Panel forInborn Errors of Metabolism

EZGÜ F. S., çiftci b., topcu b., İNCİ A., OKUR İ., BİBEROĞLU G., et al.
ICIEM, 5 - 08 September 2017, (Summary Text)

33. In Vitro Stopcodon Readthrough ofAlfa-Galactosidase and Alfa-GlucosidasePremature Termination Codons UsingGentamicin, Geneticin, and Ataluren:Therapeutic Potential for Fabry and PompeDiseases

dundar h., BİBEROĞLU G., OKUR İ., TÜMER L., EZGÜ F. S.
ICIEM, 5 - 08 September 2017, (Summary Text)

34. Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders

BİBEROĞLU G., DERİN B., İNCİ A., OKUR İ., EZGÜ F. S., TÜMER L.
ICIEM, 5 - 08 September 2017, (Summary Text)

35. Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu

İNCİ A., OLGAÇ KILIÇKAYA M. A. B., OKUR İ., AKKUZU E., BİBEROĞLU G., EZGÜ F. S., et al.
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, (Summary Text)

36. In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

Dündar H., Biberoğlu G., Okur İ., Tümer L., Ezgü F. S.
13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, United States Of America, 13 - 17 February 2017, vol.120, (Summary Text) identifier

37. Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis

İNCİ A., GENÇ B., YILMAZ-DEMİRTAŞ C., UDGU B., KARAOĞLU A., OKUR İ., et al.
13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 October 2016, (Summary Text)

38. Evaluation of chitotriosidase and high sensitivity c reactive protein levels in mucopolysaccaridosis patients

İNCİ A., DERİN B., YILMAZ C., udgu b., KARAOĞLU A., OKUR İ., et al.
MEMG, 28 - 30 October 2016

39. Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccarıdosıs

İNCİ A., GENÇ B., YILMAZ-DEMİRTAŞ C., UDGU B., KARAOĞLU A., OKUR İ., et al.
13th MEMG Meeting, 28 ekim-30kasım 2016, Amman, Jordan, 28 - 30 October 2016

40. Could propionylcarnitine and free carnitinebe used as antioxidative markers in mucopolysaccaridosis

İNCİ A., BİBEROĞLU G., DERİN B., KARAOĞLU A., OKUR İ., EZGÜ F. S., et al.
MEMG, 28 - 30 October 2016

41. Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients

İNCİ A., TÜMER L., YILMAZ-DEMİRTAŞ C., KARAOĞLU A., OKUR İ., OLGAÇ M. A. B., et al.
13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 October 2016, (Full Text)

42. Early initiation of investigational enzyme replacement therapy in a nine month old infant with mucopolysaccharidosis type VII

KARAOĞLU A., İNCİ A., BİBEROĞLU G., OKUR İ., kılıçkaya a., TÜMER L., et al.
MEMG, 28 - 30 October 2016

43. The specificity and sensitivity of next generation semiconductor DNA sequencing in detecting heteroplasmic mitochondrial

EZGÜ F. S., topcu b., çiftci b., dündar H., BİBEROĞLU G., OKUR İ., et al.
MEMG, 28 - 30 October 2016, (Summary Text)

44. Evaluation of gentamycin for stop codon readthrough therapy in Fabry disease

halil d., BİBEROĞLU G., çiftci b., topcu b., OKUR İ., TÜMER L., et al.
MEMG, 28 - 30 October 2016, (Summary Text)

45. Do cytokine levels play a role in pathogenesis of mucopolysaccaridosis patients

İNCİ A., TÜMER L., Demirtaş C., KARAOĞLU A., OKUR İ., OLGAÇ M. A. B., et al.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, (Summary Text)

46. Evaluation of chitotriosidase and high sensitivity c reactive protein levels in mucopolysaccaridosis

İNCİ A., Genç B., Demirtaş C., Udgu B., KARAOĞLU A., OKUR İ., et al.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, (Summary Text)

47. Early initiation of investigational enzyme replacement therapy in a 9 month old infant with mucopolysaccharidosis type VII

KARAOĞLU A., İNCİ A., BİBEROĞLU G., OKUR İ., Kılıçkaya A., KELEŞ E., et al.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, (Summary Text)

48. Identification of a novel mutation in Turkish infant with early onset monocarboxylate transporter 1 MCT1 deficiency as a cause of recurrent ketoacidosis

OKUR İ., İNCİ A., KELEŞ E., KARAOĞLU A., Ceylaner S., BİBEROĞLU G., et al.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, (Summary Text)

49. Identification of a novel mutation in Turkish infant with early onset monocarboxylatetransporter1 MCT1 deficiencyasacauseofrecurrent ketoacidosi

OKUR İ., İNCİ A., KELEŞ E., KARAOĞLU A., CEYLANER S., BİBEROĞLU G., et al.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, vol.39, pp.35-284, (Summary Text)

50. Plasma acylcarnitine levels Are there New İnflammatory markers in lysosomal storage disease

BİBEROĞLU G., DERİN B., İNCİ A., udgu b., kurnaz p., OKUR İ., et al.
MEMG, 29 October - 01 November 2015, (Summary Text)

51. Is there any effect of acylcarnitines on proinflammatory process in obese children

BİBEROĞLU G., DERİN B., İNCİ A., DÖĞER E., OKUR İ., EZGÜ F. S., et al.
SSIEM, 1 - 04 September 2015

52. A novel mutation for L 2 hydroxyglutaric aciduria in a 7 year old patient

OLGAÇ M. A. B., TÜMER L., EZGÜ F. S., BİBEROĞLU G., alev h.
SSIEM, 1 - 04 September 2015, (Summary Text)

53. Mucopolysaccharidosis Type VII at an Early Age A good candidate for investigational enzyme replacement therapy

Abdulbaki K., EZGÜ F. S., BİBEROĞLU G., OLGAÇ M. A. B., İNCİ A., TÜMER L.
SSIEM, 1 - 04 September 2015, (Summary Text)

54. A completely new approach to the diagnosis of inbornerrors development of a 450 gene all metabolic disorders next generation sequencing panel

EZGÜ F. S., çiftçi b., topçu b., OKUR İ., İNCİ A., OLGAÇ M. A. B., et al.
SSIEM Annual Symposium, 1 - 04 September 2015

55. Lysinuric protein intolerance An overlooked diagnosis

TÜMER L., OLGAÇ M. A. B., ÖZGÜL R. K., YENİCESU İ., EZGÜ F. S., BİBEROĞLU G., et al.
SSIEM Annual Symposium, 1 - 04 September 2015

56. The results of enzyme studies in the diagnosis of lysosomal diseases: 8 years experience of Gazi University, Ankara, Turkey

Hasanoglu A., BİBEROĞLU G., OKUR İ., Turner L., EZGÜ F. S., Udgu B., et al.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114, (Summary Text) identifier

57. Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

TÜMER L., Olgac A., BİBEROĞLU G., SARI S., DALGIÇ B., Hasanoglu A.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114, (Summary Text) identifier

58. Identification of novel mutations and prevalence for Fabry disease (FD) via screening studies using dried blood samples (DBS) among hemodialysis patients in Turkey

Okura I., BİBEROĞLU G., EZGÜ F. S., Turner L., ERTEN Y., Bicik Z., et al.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114, (Summary Text) identifier

59. Importance of family screening in Fabry disease: Reaching the bottom of the iceberg

Ezgu F. S., Koca S., OKUR İ., BİBEROĞLU G., TÜMER L., Bakkaloglu S. A., et al.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114, (Summary Text) identifier

60. PREVALENCE OF FABRY DISEASE AMONG HEMODIALYSIS PATIENTS IN TURKEY

Okur İ., BİBEROĞLU G., Ezgu F. S., TÜMER L., Hasanoglu A., Bicik Z., et al.
50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress, İstanbul, Turkey, 18 - 21 May 2013, vol.28, pp.321, (Summary Text) identifier
Metrics

Publication

118

Publication (WoS)

49

Publication (Scopus)

42

Citation (WoS)

280

H-Index (WoS)

9

Citation (Scopus)

316

H-Index (Scopus)

11

Citation (Scholar)

264

H-Index (Scholar)

10

Citation (TrDizin)

1

H-Index (TrDizin)

1

Citation (Sum Other)

1

Project

15

Thesis Advisory

1

Open Access

7
UN Sustainable Development Goals