Yayınlar & Eserler

Yayın Ağı
Makaleler 42
Tümü (42)
SCI-E, SSCI, AHCI (34)
SCI-E, SSCI, AHCI, ESCI (37)
ESCI (3)
Scopus (36)
TRDizin (7)
Diğer Yayınlar (2)

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 , cilt.184, sa.9, 2025 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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 , cilt.55, sa.3, ss.585-594, 2025 (SCI-Expanded) identifier

3. 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 , 2025 (SCI-Expanded, Scopus) 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 , cilt.35, ss.681-685, 2022 (SCI-Expanded) 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 , cilt.30, sa.SUPPL 1, ss.558, 2022 (SCI-Expanded) 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 , cilt.27, sa.1, ss.199-202, 2022 (SCI-Expanded) 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 , cilt.135, sa.2, 2022 (SCI-Expanded) 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 (Hakemli Dergi)

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 , cilt.28, sa.4, ss.565-571, 2021 (Hakemli Dergi) 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 , cilt.10, sa.4, ss.1492-1497, 2021 (Hakemli Dergi) 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 , cilt.45, sa.8, ss.1788-1792, 2021 (SCI-Expanded) 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 , cilt.185, sa.9, ss.2739-2747, 2021 (SCI-Expanded) 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 , cilt.88, ss.723-0, 2021 (SCI-Expanded) 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 , cilt.24, sa.1, ss.103-105, 2021 (SCI-Expanded) 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 , cilt.14, sa.5, ss.887-896, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma 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 , cilt.132, sa.2, 2021 (SCI-Expanded) 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 , cilt.32, sa.2, ss.171-173, 2021 (ESCI) 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 , cilt.34, sa.6, ss.805-812, 2021 (SCI-Expanded) 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 , cilt.118, sa.6, 2020 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma 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 , cilt.76, sa.4, ss.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 , cilt.29, sa.12, ss.1207-1211, 2019 (SCI-Expanded) 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 , cilt.34, sa.2, ss.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 , cilt.687, ss.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 , cilt.5, sa.1, ss.47-50, 2018 (ESCI) 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 , cilt.56, sa.4, ss.418-422, 2014 (SCI-Expanded) 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 , cilt.33, sa.3, ss.509-512, 2014 (SCI-Expanded) 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 , cilt.26, sa.11-12, ss.1149-1152, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma 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 , cilt.527, sa.1, ss.42-47, 2013 (SCI-Expanded) 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 , cilt.26, ss.427-431, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma 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 , cilt.22, sa.2, ss.124-127, 2013 (SCI-Expanded) 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 , cilt.4, sa.1, ss.32-34, 2012 (Hakemli Dergi)

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 , cilt.4, sa.3, 2012 (Hakemli Dergi)

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 , cilt.37, sa.4, ss.437-444, 2012 (SCI-Expanded) 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 , cilt.13, sa.4, ss.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 , cilt.53, sa.5, ss.522-527, 2011 (SCI-Expanded) 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 , cilt.210, 2011 (SCI-Expanded) 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 , cilt.170, sa.6, ss.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 , cilt.339, ss.55-61, 2010 (SCI-Expanded) 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 , cilt.24, sa.4, ss.478-481, 2009 (SCI-Expanded) 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 , cilt.19, sa.7, ss.469-474, 2008 (SCI-Expanded) 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 , cilt.63, sa.1, ss.33-37, 2008 (SCI-Expanded) 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 , cilt.17, sa.3, ss.0-159, 2006 (ESCI) Creative Commons License identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 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, Türkiye, 28 Nisan 2024, (Özet Bildiri)

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, İsrail, 29 Ağustos 2023, (Özet Bildiri) Creative Commons License

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, Türkiye, 03 Ekim 2022, (Özet Bildiri)

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, Türkiye, 04 Ekim 2022, (Özet Bildiri)

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, Almanya, 30 Ağustos - 02 Eylül 2022, sa.1418955, (Tam Metin Bildiri)

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, Türkiye, 25 - 27 Kasım 2021, (Özet Bildiri)

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, Türkiye, 25 - 27 Kasım 2021, (Özet Bildiri)

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, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.129, (Özet Bildiri) identifier

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, Hollanda, 3 - 06 Eylül 2019, (Özet Bildiri)

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 Eylül 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 Eylül 2019, (Özet Bildiri)

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 Nisan 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 Nisan 2019, (Özet Bildiri)

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, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)

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 Nisan 2019, (Özet Bildiri)

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 Kasım - 02 Aralık 2018, (Tam Metin Bildiri)

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, Türkiye, 21 - 22 Ekim 2018, (Tam Metin Bildiri)

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 Eylül 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 Eylül 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 Eylül 2018, (Özet Bildiri)

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

TÜMER L., İNCİ A., OKUR İ., BİBEROĞLU G., EZGÜ F. S.
SSIEM, 4 - 07 Eylül 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 Eylül 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 Eylül 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 Eylül 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, Türkiye, 5 - 08 Nisan 2018, cilt.121, ss.104-105, (Özet Bildiri)

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, Yunanistan, 9 - 11 Şubat 2018, (Özet Bildiri)

27. 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 Eylül 2017, (Özet Bildiri)

28. Renal Involvement in Fabry Disease

İNCİ A., BİBEROĞLU G., OKUR İ., PAŞAOĞLU Ö. T., TÜMER L., PAŞAOĞLU H., et al.
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)

29. 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 Eylül 2017, (Özet Bildiri)

30. 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 Eylül 2017, (Özet Bildiri)

31. 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 Eylül 2017, (Özet Bildiri)

32. 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 Eylül 2017, (Özet Bildiri)

33. 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 Eylül 2017, (Özet Bildiri)

34. 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, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)

35. 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, Amerika Birleşik Devletleri, 13 - 17 Şubat 2017, cilt.120, (Özet Bildiri) identifier

36. 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 Ekim 2016, (Özet Bildiri)

37. 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 Ekim 2016

38. 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 Ekim 2016

39. 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 Ekim 2016

40. 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 Ekim 2016, (Tam Metin Bildiri)

41. 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 Ekim 2016, (Özet Bildiri)

42. 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 Ekim 2016, (Özet Bildiri)

43. 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 Ekim 2016

44. 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 Eylül 2016, (Özet Bildiri)

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 Eylül 2016, (Özet Bildiri)

46. 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 Eylül 2016, (Özet Bildiri)

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 Eylül 2016, (Özet Bildiri)

48. 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 Eylül 2016, cilt.39, ss.35-284, (Özet Bildiri)

49. 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 Ekim - 01 Kasım 2015, (Özet Bildiri)

50. 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 Eylül 2015

51. 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 Eylül 2015, (Özet Bildiri)

52. 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 Eylül 2015, (Özet Bildiri)

53. 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 Eylül 2015

54. 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 Eylül 2015

55. 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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

56. 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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

57. 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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

58. 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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

59. 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, Türkiye, 18 - 21 Mayıs 2013, cilt.28, ss.321, (Özet Bildiri) identifier
Metrikler

Yayın

117

Yayın (WoS)

49

Yayın (Scopus)

42

Atıf (WoS)

271

H-İndeks (WoS)

9

Atıf (Scopus)

300

H-İndeks (Scopus)

11

Atıf (Scholar)

263

H-İndeks (Scholar)

9

Proje

14

Tez Danışmanlığı

1

Açık Erişim

7
BM Sürdürülebilir Kalkınma Amaçları