Prof. Dr. İLYAS OKUR

Yayın Ağı

Makaleler 123

1. Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Akyüz A., İNCİ A., OKUR İ., TÜMER L., EZGÜ F. S.

Orphanet Journal of Rare Diseases , cilt.20, sa.1, 2025 (SCI-Expanded, Scopus)

2. Dietary Inflammatory Index and Nutritional Status in Children with Inborn Errors of Metabolism on Protein-Restricted Diets

Aktaş E., ÇİÇEK B., OKUR İ., İNCİ A., TÜMER L.

Nutrients , cilt.17, sa.18, 2025 (SCI-Expanded, Scopus)

3. 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, Scopus) Sürdürülebilir Kalkınma

4. 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)

5. 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)

6. Rapidly progressive late-oset X-linked adrenoleukodystrophy with a novel mutation.

SODAN H. N., YORULMAZ R., HATİPOĞLU M., BATUR ÇAĞLAYAN H. Z., EZGÜ F. S., OKUR İ., et al.

JCEM Case Reports , 2025 (Hakemli Dergi)

7. New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography

Özsaydl Aktaşoǧlu E., Klllç A., Emecen Sanll M., Inci A., Aktaş E., AKDULUM İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.9, ss.820-824, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

8. A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review

GÖKALP S., İNCİ A., KILIÇ A., Ozsaydi E., ALTUN A. N., DEMİR F., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.37, sa.6, ss.571-574, 2024 (SCI-Expanded, Scopus)

9. Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy

KILIÇ A., Emecen Sanli M., Ozsaydl Aktasoglu E., GÖKALP S., BİBEROĞLU G., Inci A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.37, sa.5, ss.413-418, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

10. Intestinal microbiota composition of children with glycogen storage Type I patients

Gokalp S., DİNLEYİCİ E. Ç., Muluk C., İNCİ A., Aktas E., OKUR İ., et al.

EUROPEAN JOURNAL OF CLINICAL NUTRITION , cilt.78, sa.5, ss.407-412, 2024 (SCI-Expanded, Scopus)

11. Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia

Öktem R. M., İnci A., BAYRAK H., DEMİR F., BİBEROĞLU G., Maviş M. E., et al.

MOLECULAR SYNDROMOLOGY , cilt.15, sa.3, ss.185-193, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

12. Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of the nitisinone therapeutic range

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

Biochimica Clinica , cilt.47, sa.3, ss.340-345, 2023 (Scopus)

13. Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Emecen Şanlı M., Aktaş E., İnci A., Okur İ., Ezgü F. S., Tümer L.

GUNCEL PEDIATRI , cilt.21, 2023 (ESCI, Scopus)

14. Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy

Emecen Sanli M., Kılıç A., İnci A., Okur İ., Ezgü F. S., Tümer L.

Journal of Pediatric Endocrinology and Metabolism , cilt.36, sa.7, ss.650-658, 2023 (SCI-Expanded, Scopus)

15. Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

Karagol H. I. E., İnci A., Terece S. P., Kılıç A., Demir F., Yapar D., et al.

International Archives of Allergy and Immunology , cilt.184, sa.4, ss.370-375, 2023 (SCI-Expanded, Scopus)

16. A phase 1/2 study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.

Muschol N., Koehn A., Von Cossel K., Okur İ., Ezgu F. S., Harmatz P., et al.

The Journal of clinical investigation , cilt.133, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

Yıldız Ç., Gezgin Yıldırım D., İnci A., Tümer L., Ergin F. B., Sunar Yayla E. N. S., et al.

Joint Bone Spine , cilt.90, sa.1, 2023 (SCI-Expanded, Scopus)

18. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

Okur İ., Ezgu F. S., Giugliani R., Muschol N., Koehn A., Amartino H., et al.

JOURNAL OF PEDIATRICS , ss.50-58, 2022 (SCI-Expanded, Scopus)

19. MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ

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

Kocatepe Tıp Dergisi , cilt.23, sa.3, ss.322-325, 2022 (TRDizin)

20. Assessment of auditory functions in patients with hepatic glycogen storage diseases

ŞANLI M. E., YILDIRIM GÖKAY N., TUTAR H., GÜNDÜZ B., ÖZSAYDI AKTAŞOĞLU E., KILIÇ A., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.64, sa.4, ss.658-670, 2022 (SCI-Expanded, Scopus, TRDizin)

21. Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

İnci A., Kılıç Yıldırım G., Cengiz Ergin F. B., Sarı S., Eğritaş Gürkan Ö., Okur İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.451-462, 2022 (SCI-Expanded, Scopus)

22. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

ŞANLI M. E., Cengiz B., Kilic A., Ozsaydi E., Inci A., Okur İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.497-503, 2022 (SCI-Expanded, Scopus)

23. 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, Scopus)

24. First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

Sanli M. E., ERTOY KARAGÖL H. İ., KILIÇ A., Aktasoglu E., İNCİ A., OKUR İ., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.2, ss.273-277, 2022 (SCI-Expanded, Scopus)

25. Specialty-Training Program During COVID-19 Pandemic: A Single Center Survey on over 300 Trainees and Trainers

OĞUZÜLGEN İ. K., KALKANCI A., AYHAN M. S., DERİCİ Ü., ŞENKÖYLÜ A., Gonul I. I., et al.

GAZI MEDICAL JOURNAL , cilt.33, sa.4, ss.381-384, 2022 (ESCI, Scopus)

26. 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)

27. 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 (TRDizin)

28. 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 (TRDizin)

29. 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, Scopus)

30. Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

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

ORPHANET JOURNAL OF RARE DISEASES , cilt.16, sa.1, 2021 (SCI-Expanded, Scopus)

31. Tralesinidase alfa (AX 250) Enzyme Replacement Therapy for Sanfilippo Syndrome Type

Maricich S., Okur İ., Ezgu F. S., Lopez d. C. M., Couce L. M., Harmatz P., et al.

ANNALS OF NEUROLOGY , cilt.90, 2021 (SCI-Expanded, Scopus)

32. 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, Scopus)

33. The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

Kasapkara Ç. S., Olgac A., OKUR İ., EZGÜ F. S., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.3, ss.257-261, 2021 (ESCI, TRDizin)

34. Natural History of Sanfilippo Syndrome Type B in Young Patients: Ongoing Results from Two Large, Prospective Studies

Maricich S., Amartino H., Giugliani R., Muschol N., Harmatz P., Lopez d. C. M., et al.

ANNALS OF NEUROLOGY , cilt.90, 2021 (SCI-Expanded, Scopus)

35. 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, Scopus)

36. Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A., Ergin F. B., Yüce B. T., Çiftçi B., Demir E., Buyan N., et al.

JOURNAL OF BONE AND MINERAL METABOLISM , cilt.39, sa.4, ss.598-605, 2021 (SCI-Expanded, Scopus)

37. 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, Scopus)

38. 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

39. 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, Scopus)

40. Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies

Giugliani R., OKUR İ., Ezgu F. S., Muschol N., Harmatz P., de Castro Lopez M., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.132, sa.2, 2021 (SCI-Expanded, Scopus)

41. Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B

Muschol N., von Cossel K., OKUR İ., Ezgu F. S., de Castro Lopez M., Luz Couce M., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.132, sa.2, 2021 (SCI-Expanded, Scopus)

42. CDH13 and LPHN3 Gene Polymorphisms in Attention-Deficit/Hyperactivity Disorder: Their Relation to Clinical Characteristics.

Özaslan A., Güney E., Ergün M. A., Okur İ., Yapar D.

Journal of molecular neuroscience : MN , cilt.71, ss.394-408, 2021 (SCI-Expanded, Scopus)

43. Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate

ŞANLI M. E., KILIÇ A., ÖZSAYDI AKTAŞOĞLU E., İNCİ A., OKUR İ., Ezgu F. S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.6, ss.813-816, 2021 (SCI-Expanded, Scopus)

44. Enzim Replasman Tedavisi

KILIÇ A., OKUR İ.

Türkiye Klinikleri Pediatri Dergisi , cilt.1, ss.16-23, 2021 (Scopus, TRDizin)

45. 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, Scopus)

46. Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey

Pehlivantürk Kızılkan M., Özmert E. N., Derman O., Okur İ., Kaynak M. O., Adiguzel A., et al.

JOURNAL OF IMMIGRANT AND MINORITY HEALTH , cilt.22, sa.6, ss.1149-1154, 2020 (SSCI)

47. 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)

48. 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, Scopus)

49. 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)

50. Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy

Guliyeva U., OKUR İ., Dulac O., Khalilov O., Guliyeva S.

NEUROPEDIATRICS , cilt.49, sa.6, ss.417-418, 2018 (SCI-Expanded, Scopus)

51. Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected

Sal E., Yenicesu I., OKUR İ., KAYA Z., EZGÜ F. S., KOÇAK Ü., et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , cilt.40, sa.5, ss.355-359, 2018 (SCI-Expanded, Scopus)

52. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., et al.

American journal of human genetics , cilt.102, ss.713, 2018 (SCI-Expanded, Scopus)

53. Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells

İNCİ A., OKUR İ., ESENDAĞLI G., OKUR A., Olgac A., EZGÜ F. S., et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , cilt.40, sa.3, ss.243-245, 2018 (SCI-Expanded, Scopus)

54. Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

Ozturk Z., Hırfanoğlu T., İnci A., Okur İ., Koç E., Tümer L., et al.

JOURNAL OF PEDIATRIC NEUROSCIENCES , cilt.13, sa.2, ss.276-278, 2018 (ESCI, Scopus)

55. Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents

Yavas A. K., Eminoglu T. F., OKUR İ., Aral A., Hasanoglu A., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.1, ss.1-5, 2017 (ESCI, TRDizin)

56. Cocuk ve adolesenlarda soluble CD40 ligandi ile yuksek kolesterol duzeylerinin iliskisi Association between soluble CD40 ligand and hypercholesterolemia in children and adolescent

KÜÇÜKCONGAR A., EMİNOĞLU F. T., OKUR İ., ARAL L. A., hasanoğlu a., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH , cilt.4, sa.1, ss.1-5, 2017 (TRDizin)

57. Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects

Walsh M. T., Di Leo E., OKUR İ., Tarugi P., Hussain M. M.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS , cilt.1861, sa.11, ss.1623-1633, 2016 (SCI-Expanded, Scopus)

58. Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.99, sa.1, ss.236-245, 2016 (SCI-Expanded, Scopus)

59. Audiologic evaluations of children with mucopolysaccharidosis

Gokdogan C., Altınyay Ş., Gokdogan O., Tutar H., Gündüz B., Okur İ., et al.

BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY , cilt.82, sa.3, ss.281-284, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma

60. COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE

Ozturk Z., Arhan E., Aydin K., Hirfanoglu T., Tumer L., Okur İ., et al.

GENETIC COUNSELING , cilt.27, sa.3, ss.399-403, 2016 (SCI-Expanded, Scopus)

61. The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations

Di Leo E., Eminoglu T., Magnolo L., Bolkent M. G., TÜMER L., OKUR İ., et al.

JOURNAL OF CLINICAL LIPIDOLOGY , cilt.9, sa.3, ss.400-405, 2015 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

62. Neonates with inborn errors of metabolism: spectrum and short-term outcomes at a tertiary care hospital

Gunduz M., Unal S., OKUR İ., Ayranci-Sucakli I., Guzel F., Koc N.

TURKISH JOURNAL OF PEDIATRICS , cilt.57, sa.1, ss.45-52, 2015 (SCI-Expanded, Scopus, TRDizin)

63. Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

van Hasselt P. M., Ferdinandusse S., Monroe G. R., Ruiter J. P. N., Turkenburg M., Geerlings M. J., et al.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.371, sa.20, ss.1900-1907, 2014 (SCI-Expanded, Scopus)

64. Serum dipeptidyl peptidase-IV: A better screening test for early detection of mucopolysaccharidosis?

Kurt I., Sertoglu E., OKUR İ., Tapan S., Uyanik M., Kayadibi H., et al.

CLINICA CHIMICA ACTA , cilt.431, ss.250-254, 2014 (SCI-Expanded, Scopus)

65. 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, Scopus)

66. Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children

OKUR İ., TÜMER L., EZGÜ F. S., Yesilkaya E., Aral A., ÖZHAN OKTAR S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, ss.657-662, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

67. Quality of life in children treated with restrictive diet for inherited metabolic disease

Eminoglu T. F., Soysal S. A., TÜMER L., OKUR İ., Hasanoglu A.

PEDIATRICS INTERNATIONAL , cilt.55, sa.4, ss.428-433, 2013 (SCI-Expanded, Scopus)

68. Clinical course and outcome of glycogen-storage disease type 1a and type 1b

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

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , cilt.48, sa.2, ss.117-122, 2013 (ESCI, Scopus, TRDizin)

69. Erken dönemde dismorfik bulguları ile tanı alan Smith Lemli Opitz Sendromu olgusu

OKUR İ., GÜNDÜZ M., GÜZEL F., KOÇ N., VURALKAN F., CEYLANER S.

Türk Ped Arş , 2013 (Hakemli Dergi)

70. Two novel deletions in hypotonia-cystinuria syndrome

Regal L., Aydin H. I., Dieltjens A., Van Esch H., Francois I., OKUR İ., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.107, sa.3, ss.614-616, 2012 (SCI-Expanded, Scopus)

71. Fabry Hastalığında Klinik Bulgular ve Doğal Seyir

Okur İ.

TURKIYE KLINIKLERI PEDIATRI , cilt.21, sa.4 Suppl 1, ss.18-23, 2012 (Scopus, TRDizin)

72. GENOTYPIC FEATURES OF 41 PATIENTS WITH GAUCHER DISEASE FROM TURKEY

Hasanoglu A., Akay G., Ezgu F. S., Biberoglu G., Tumer L., Okur İ., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus)

73. COMPREHENSIVE SEQUENCING OF MITOCHONDRIAL DNA IN PATIENTS WITH SUSPECTED MITOCHONDRIAL DISEASE: IS THERE A NEED FOR A REVISED MOLECULAR DIAGNOSTIC ALGORITHM?

Ezgu F. S., Kucukcongar A., Ciftci B., Kasapkara C., Hasanoglu A., Tumer L., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus)

74. ASSOCIATION BETWEEN SOLUBLE CD40 LIGAND AND PROTHROMBOTIC STATE IN CHILDREN WITH HYPERCHOLESTEROLEMIA

Kucukcongar A., Eminoglu F. T., Okur İ., Aral A., Hasanoglu A., Tumer L.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus)

75. MUCOPOLYSACCHARIDOSIS: EFFECTS OF ENZYME-REPLACEMENT THERAPY IN 27 CHILDREN WITH MPS I, II AND VI

Hasanoglu A., Tumer L., Ezgu F. S., Okur İ., Eminoglu F. T., Kasapkara C. S., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus)

76. THE VALUE OF THE SURROGATE TESTS (SERUM DIPEPTIDYL PEPTIDASE-IV, ADENOSINE DEAMINASE-1, CHITOTRIOSIDASE) IN THE DIAGNOSIS OF MUCOPOLYSACCHARIDOSIS

Kurt I., Hasanoglu A., Aydin H., Okur İ., Sertoglu E., Tapan S., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus)

77. Hypercalcemia in glycogen storage disease type I patients of Turkish origin

Kasapkara Ç. S., TÜMER L., OKUR İ., Eminoglu T., EZGÜ F. S., Hasanoglu A.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.1, ss.35-37, 2012 (SCI-Expanded, Scopus)

78. 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, Scopus)

79. 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, Scopus)

80. IDUA Mutational Profiling of a Cohort of 102 European Patients with Mucopolysaccharidosis Type I: Identification and Characterization of 35 Novel alpha-L-iduronidase (IDUA) Alleles

Bertola F., Filocamo M., Casati G., Mort M., Rosano C., Tylki-Szymanska A., et al.

HUMAN MUTATION , cilt.32, sa.6, 2011 (SCI-Expanded, Scopus)

81. 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)

82. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Hasanoglu A., Balwani M., Kasapkara Ç. S., EZGÜ F. S., OKUR İ., TÜMER L., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, sa.1, ss.225-231, 2011 (SCI-Expanded, Scopus)

83. A NOVEL MUTATION IN A TURKISH PATIENT WITH DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY

Aydin H., Okur İ., Vurucu S., Mxller L. B.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

84. TWO NOVEL MUTATIONS IN TURKISH PATIENTS WITH SJVGREN LARSSON SYNDROME

Aydin H., Okur İ., Unay B., Nakano H., Wanders R. J.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

85. An Interesting Case of Fabry Disease Presented with Unexplained Abdomen Pain

KÜÇÜKÇONGAR A., OKUR İ., EZGÜ F. S., KASAPKARA Ç. S., TÜMER L., DALGIÇ B., et al.

Lizozomal Depo Hastalıkları Dergisi , cilt.3, sa.1, ss.21-24, 2011 (Hakemli Dergi)

86. AN INFANTILE CASE OF ZELLWEGER SYNDROME PRESENTED WITH KABUKI-LIKE PHENOTYPE

Ezgu F. S., Eminoglu T., OKUR İ., Gunduz M., Tumer L., Hasanoglu A., et al.

GENETIC COUNSELING , cilt.22, sa.2, ss.217-220, 2011 (SCI-Expanded, Scopus)

87. NOVEL DELETION IN HYPOTONIA-CYSTINURIA SYNDROME

Aydin H., Okur İ., Creemers J. W. M., COŞKUN T.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

88. A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETS

Kasapkara Ç. S., Tumer L., OKUR İ., Hasanoglu A.

GENETIC COUNSELING , cilt.22, sa.2, ss.187-192, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

89. AN ADULT PATIENT WITH LATE DIAGNOSED LYSINURIC PROTEIN INTOLERANCE

Aydin H., Okur İ., Cetin T., Kurt I.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

90. A NOVEL MUTATION IN A TURKISH PATIENT WITH THE INFANTILE FORM OF TAY-SACHS DISEASE

Okur İ., Aydin H., Akin R.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus)

91. Mukopolisakkaridoz Tip VI Tanılı Olgularda Enzim Replasman Tedavi Sonuçlarının Değerlendirilmesi Gazi Üniversitesi Deneyimi

HASANOĞLU A., EZGÜ F. S., TÜMER L., KASAPKARA Ç. S., OKUR İ., KÜÇÜKÇONGAR A.

Lizozomal Depo Hastalıkları Dergisi , cilt.3, sa.1, ss.1-3, 2011 (Hakemli Dergi)

92. The role of viral agents in aetiopathogenesis of acute rheumatic fever

Olgunturk R., OKUR İ., Cirak M. Y., OĞUZ A. D., Akalin N., Turet S., et al.

CLINICAL RHEUMATOLOGY , cilt.30, sa.1, ss.15-20, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

93. HYPERCALCAEMIA IN GLYCOGEN STORAGE DISEASE TYPE 1 PATIENTS OF TURKISH ORIGIN

Kasapkara C. S., Tumer L., Okur İ., Eminoglu F. T., Ezgu F. S., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

94. N-CARBAMYLGLUTAMATE TREATMENT FOR ACUTE NEONATAL HYPERAMMONAEMIA IN ISOVALERIC ACIDAEMIA

Kasapkara C. S., Ezgu F. S., Tumer L., Biberoglu G., Okur İ., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

95. GENOTYPE-PHENOTYPE CORRELATIONS IN TURKISH PATIENTS WITH ALPHA GALACTOSIDASE A DEFICIENCY

Koca S., Ezgu F. S., Okur İ., Biberoglu G., Tumer L., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

96. HARDEROPORPHYRIA PHENOTYPE DUE TO A HOMOZYGOUS H237R MISSENSE MUTATION

Kasapkara C. S., Hasanoglu A., Ezgu F. S., Okur İ., Tumer L., Cakmak A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

97. THE SCANNING OF COMMONLY SEEN MUTATIONS OF GLUCOSE-6-PHOSPHATASE AND GLUCOSE-6-PHOSPHATASE TRANSLOCASE GENES IN GLYCOGEN STORAGE TYPE 1A AND TYPE 1B DISEASE PATIENTS BY THE MICROELECTRONIC ARRAY TECHNOLOGY

Eminoglu F. T., Tumer L., Ezgu F. S., Okur İ., Biberoglu G., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

98. FOUR CASES OF NIEMANN-PICK TYPE C DISEASE PRESENTED WITH EARLY ONSET CHOLESTASIS

Kucukcongar A., Okur İ., Ezgu F. S., Turner L., Dalgic B., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus)

99. Screening for isolated sulfite oxidase/molibden cofactor deficiencies among the pediatric patients with encephalopathy and mental-motor retardation

Keles E., Ezgu F. S., Tosun M. S., Okur İ., Eminoglu F. T., Tumer L., et al.

EUROPEAN JOURNAL OF MEDICAL RESEARCH , cilt.14, ss.84, 2009 (SCI-Expanded, Scopus)

100. Kalıtsal Metabolik Miyopatiler

Okur İ., Eminoğlu F. T.

Türkiye Klinikleri Pediatri Dergisi , cilt.18, sa.2, ss.95-104, 2009 (Scopus, TRDizin)

101. 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, Scopus)

102. Lipid apheresis applications in childhood: Experience in the University Hospital of Gazi

Eminoglu T. F., Yenicesu I., TÜMER L., OKUR İ., Dilsiz G., Hasanoglu A.

TRANSFUSION AND APHERESIS SCIENCE , cilt.39, sa.3, ss.235-240, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

103. Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity

Eminoglu T. F., Tumer L., OKUR İ., Olgunturk R., Hasanoglu A., Gonul I. I., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, 2008 (SCI-Expanded, Scopus)

104. Crisponi Syndrome: A New Case With Additional Features and New Mutation in CRLF1

OKUR İ., TÜMER L., Crisponi L., Eminoglu F. T., Chiappe F., CİNAZ P., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.24, ss.3237-3239, 2008 (SCI-Expanded, Scopus)

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

Eminoglu F. T., Tumer L., Okur İ., Goekmen Z., Ezgu F. S., Biberoglu G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.33, 2008 (SCI-Expanded, Scopus)

106. The neonatal case diagnosed with nonketotic hyperglycinemia with a preliminary diagnosis of the chloralhydrate intoxication

Okur İ., Eminoglu F. T., Tumer L., Ezgu F. S., Biberoglu G., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.3, 2008 (SCI-Expanded, Scopus)

107. Crisponi syndrome due to a novel mutation on the cytokine receptor-like factor I (CRLFI) gene

Okur İ., Tumer L., Eminoglu F. T., Crisponi L., Cinaz P., Yenicesu I., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.153, 2008 (SCI-Expanded, Scopus)

108. The impact of inherited metabolic diseases on quality of life: A pilot study

Tumer L., Eminoglu F. T., Soysal A. S., Okur İ., Hasanoglu A.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.147, 2008 (SCI-Expanded, Scopus)

109. The same novel mutation determined in 2 Hurler-Scheie patients who are the children of different families

Hasanoglu A., Okur İ., Eminoglu F. T., Tumer L., Biberoglu G., Bertola F., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.112, 2008 (SCI-Expanded, Scopus)

110. Molecular analysis of 82 mucopolysaccharidosis type I patients: Mutational spectrum in the European population and identification of 28 novel mutations

Bertola F., Parini R., Casati G., Tylki-Szymanska A., Okur İ., TÜYSÜZ B., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.108, 2008 (SCI-Expanded, Scopus)

111. Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray

Ezgu F. S., Hasanoglu A., OKUR İ., Biberoglu G., Tumer L., Eminoglu T., et al.

BLOOD CELLS MOLECULES AND DISEASES , cilt.40, sa.2, ss.246-247, 2008 (SCI-Expanded, Scopus)

112. Kreatin Eksikliği Sendromları

Eminoğlu F. T., Ünlüsoy A., Okur İ., Tümer L., Hasanoğlu A.

TURKIYE KLINIKLERI PEDIATRI , cilt.17, sa.2, ss.110-114, 2008 (Scopus, TRDizin) Sürdürülebilir Kalkınma

113. Long-term effect of low-density lipoprotein apheresis: Experience in four children with familial homozygous hypercholesterolemia

Hasanoglu A., Yenicesu I., Eminoglu F. T., Okur İ., Tumer L.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.127, 2007 (SCI-Expanded, Scopus)

114. Cryptic exon activation by disruption of an exon splice enhancer: A novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency

Eminoglu F. T., Turner L., Okur İ., Biberoglu G., Derin B., Cinasal D. G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.40, 2007 (SCI-Expanded, Scopus)

115. 3-Methylcrotonylglycinuria in a family: Late and different clinical presentation

Eminoglu F. T., Turner L., Okur İ., Biberoglu G., Derin B., Cinasal Demir G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.40, 2007 (SCI-Expanded, Scopus)

116. Multisystem involvement: A rare and unusual presentation of GSD type IV

Tumer L., Eminoglu F. T., Okur İ., Hasanoglu A., Olgunturk R.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.60, 2007 (SCI-Expanded, Scopus)

117. Investigation of 10 common mutations in Turkish Gaucher patients by use of the nanochip microelectronic array technology

Hasanoglu A., Ezgu F. S., Okur İ., Eminoglu F. T., Biberoglu G., Tumer L.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.108, 2007 (SCI-Expanded, Scopus)

118. The first results of 18 months experience with lysosomal storage disease

Biberoglu G., Hasanoglu A., Ezgu F. S., Tumer L., Okur İ., Eminoglu F. T., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.95, 2007 (SCI-Expanded, Scopus)

119. The effects of laronidase treatment in a patient with Hurler syndrome: Results of one year therapy

Hasanoglu A., Tumer L., Ezgu F. S., Gunduz M., Okur İ., Eminoglu T.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, ss.149, 2006 (SCI-Expanded, Scopus)

120. Incidence of osteoporosis in a metabolic unit

Hasanoglu A., Turner L., Ezgu F. S., Eminoglu F. T., Okur İ.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, ss.159, 2006 (SCI-Expanded, Scopus)

121. Giant bronchogenic cyst mimicking tension pneumothorax.

Demircan S., Kurul İ. C., Tokur M., Memis L., Okur İ.

Asian cardiovascular & thoracic annals , cilt.14, ss.244-6, 2006 (Scopus)

122. Karbonmonoksit Zehirlenmesinde Hiperbarik Oksijen Tedavisi İki Olgu Sunumu

OKUR İ., SERDAROĞLU A., OKUR A., BUYAN N., DÜNDAR K., ARGA M., et al.

TÜRKİYE KLİNİKLERİ J PEDİATR , cilt.14, ss.220-222, 2005 (Hakemli Dergi)

123. Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions

Ezgu F. S., Buyan N., Gunduz M., Tumer L., OKUR İ., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.163, sa.3, ss.163-165, 2004 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 121

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. X’e Bağlı Adrenolökodistrofi olan Beş Vakanın ABCD1 Genetik Analizi

Ergin F. B., Çilesiz K., Kasapkara Ç. S., Yalçın M. M., Keskin M., Arslanoğlu İ., et al.

Ankara Bilkent Şehir Hastanesi 1. Pediatri Kongresi , Ankara, Türkiye, 17 - 19 Ekim 2024, ss.132-133, (Özet Bildiri)

3. Rapidly progressive late onset X linked Adrenoleukodystrophy with a novel mutation.

SODAN H. N., YORULMAZ R., HATİPOĞLU M., BATUR ÇAĞLAYAN H. Z., EZGÜ F. S., OKUR İ., et al.

Endobridge 2024, Antalya, Türkiye, 17 Ekim 2024, (Tam Metin Bildiri)

4. Fenilketonüri Tanısı İle İzlenen Hastalarda Visseral Adipositenin Değerlendirilmesi

Gökalp S., Bostancı F., Aktaş E., İnci A., Okur İ., Ezgü F. S., et al.

I. Ulusal Çocuk Beslenme Kongresi, Gaziantep, Türkiye, 25 Ekim 2023, (Özet Bildiri)

5. Glikojen Depo Tip 1 Hastalığında Lif Takviyesinin Metabolik Kontrole Etkisi

Emecen Şanlı M., Aktaş E., İnci A., Okur İ., Ezgü F. S., Tümer L.

I. Ulusal Çocuk Beslenme Kongresi, Gaziantep, Türkiye, 25 Ekim 2023, (Özet Bildiri)

6. Bone Turnover in Patients with Lysosomal Storage Disorders

Gökalp S., İnci A., Okur İ., Ezgü F. S., Tümer L.

Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos - 01 Eylül 2023, (Özet Bildiri)

7. An Alternative for Early Detection of Cardiac Involvement in Gaucher Type 1 Disease: Speckle Tracking Echocardiograpy

GÖKALP S., ÜNLÜ S., İNCİ A., OKUR İ., EZGÜ F. S., TÜMER L.

Annual Symposium SSIEM 2023, İsrail, 29 Ağustos - 01 Eylül 2023, (Özet Bildiri)

8. 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)

9. EVENT BASED TREATMENT OUTCOMES OF PATIENTS WITH GAUCHER DISEASE: ADIFFERENT PERSPECTIVE

Kilic A., İnci A., Okur İ., Tümer L., Ezgü F. S.

Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos 2023, (Özet Bildiri)

10. Intestinal Microbiota Composition of Children with Glycogen Storage Disease Type 1

Gökalp S., Dinleyici E. Ç., Muluk C., İnci A., Aktaş E., Okur İ., et al.

SSIEM 2023, Yerushalayim, İsrail, 29 Ağustos 2023, (Özet Bildiri)

11. Fosfomevalonatkinaz Enzim Eksikliğine Bağlı Hiperimmünglobulin D Sendromu mu?

Yıldız Ç., Gezgin Yıldırım D., İnci A., Tümer L., Ergin F. B., Sunar Yayla E. N., et al.

22. Ulusal Romatoloji Kongresi, Antalya, Türkiye, 26 - 30 Ekim 2022, ss.29, (Tam Metin Bildiri)

12. 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)

13. Long-term experience with anaphylaxis and desensitization to alglucosidase alfa in Pompe Disease

ERTOY KARAGÖL H. İ., İNCİ A., POLAT TERECE S., KILIÇ A., DEMİR F., YAPAR D., et al.

World Allergy Congress 2022, İstanbul, Türkiye, 15 Ekim 2022, (Özet Bildiri)

14. 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)

15. 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)

16. A Different Approach to the Treatment of Type III Multiple Acyl CoA Dehyrogenase Deficiency: Modified Corn Starch

İnci A., Aktaş E., Okur İ., Biberoğlu G., Tümer L., Ezgü F. S.

SSIEM 2022-, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.200, (Özet Bildiri) Sürdürülebilir Kalkınma

17. Evaluation of simultaneous succinylacetone and nitisinone measurements in type-1 tyrosinemia follow-up.

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

SSIEM Annual Symposium, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, cilt.45, sa.222288, ss.99, (Özet Bildiri)

18. Analytical performance of guanidinoacetate-creatine test with LC-MS/MS

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

SSIEM Annual Symposium, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, cilt.45, sa.1418955, ss.687, (Özet Bildiri)

19. Is The Gut Microbiota Affected By The Special Diet Treatments of Inherited Metabolic Diseases?

Gökalp S., Dinleyici E. Ç., Muluk C., İnci A., Okur İ., Ezgü F. S., et al.

SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.172-173, (Özet Bildiri)

20. Evaluation of succinylacetone and nitisinone measurement: analytical performance requirements

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

SSIEM Annual Symposium, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.414, (Özet Bildiri)

21. NEW PERSPECTIVES FOR THE TREATMENT and FOLLOW UP OF GYCOGEN STORAGE DISEASE TYPE V: DL-3-HYDROXYBUTYRIC ACID WITH MODIFIED ATKINS DIET and QUADRICEPS FEMORIS SHEAR WAVE ELASTOGRAPHY

Aktaşoğlu E., Kiliç A., Şanlı M. E., İnci A., Aktas E., Akdulum İ., et al.

SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.338, (Özet Bildiri)

22. A Different Approach For The Treatment Of Gastrointestinal Involvement In A Patient With Early Onset Lysosomal Acid Lipase Deficiency

Altun Duman A. N., İNCİ A., BÜKÜLMEZ A., GÖKALP S., KILIÇ A., Aktaşoğlu E. Ö., et al.

SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos 2022, (Özet Bildiri)

23. Clinical and radiological evaluation of normal liver sizes in malnourished children:Gazi-PULSAM liver scale

ÖZDÖNMEZ G. T., AKDULUM İ., ÖZTÜRK H., GÜRCAN KAYA N., AKSAKAL M., OKUR İ., et al.

ESPGHAN 54th ANNUAL MEETING, Kopenhag, Danimarka, 20 Haziran 2022, (Özet Bildiri) Sürdürülebilir Kalkınma

24. Krabbe hastalığında önemli bir biyobelirteç: Psikosin ölçümünün analitik performansı

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

XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Türkiye, 28 Mayıs - 01 Haziran 2022, ss.411-412, (Özet Bildiri)

25. Sık düşünülen ancak nadir saptanan hastalığın yeni saptanmış bir mutasyonu: Transaldolaz (TALDO) Eksikliği

Çilesiz K., Gökalp S., Demir F., Altun Duman A. N., İnci A., Okur İ., et al.

XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi , Hatay, Türkiye, 28 Mayıs - 02 Haziran 2022, ss.354, (Özet Bildiri)

26. HOMOZİGOT p.L483P MUTASYONUNA BAĞLI GLUKOSEREBROSİDAZ EKSİKLİĞİNDE FENİLBÜTİRAT, URSODEOKSİKOLİK ASİT, BETAİN VE PRİMETAMİNİN YENİDEN HEDEFLENEREK İNVİTRO ENZİM AKTİVİTESİNİ RESTORASYON POTANSİYELLERİNİN İNCELENMESİ

Kılıç A., Biberoğlu G., Öktem R. M., İnci A., Işık Gönül İ., Okur İ., et al.

XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Türkiye, 28 Mayıs - 01 Haziran 2022, ss.35, (Tam Metin Bildiri)

27. İdrarda organik asit taramasının optimizasyonu

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

XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Hatay, Türkiye, 28 Mayıs - 01 Haziran 2022, ss.409-410, (Özet Bildiri)

28. Mukopolisakkaridoz Tip IVA Tanılı Hastalarda Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi: Tek Merkez Deneyimi

ERTOY KARAGÖL H. İ., BAKIRTAŞ A., POLAT TERECE S., İNCİ A., EZGÜ F. S., TÜMER L., et al.

4. Genç Pediatrik Alerjistler Sempozyumu, Türkiye, 19 Mayıs 2022, (Özet Bildiri)

29. Glikojen Depo Hastalıklarında Güncel Biyobelirteç: Glukotetrasakkarit (Glc4)

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

Uluslararası Katılımlı XXII. Ulusal Klinik Biyokimya Kongresi, Antalya, Türkiye, 12 - 15 Mayıs 2022, ss.303-304, (Özet Bildiri)

30. 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)

31. Gaucher Tip I Hastalığında Kardiyak Tutulumun Erken Saptanması için Bir Alternatif: Speckle Tracking Ekokardiyografi

GÖKALP S., ÜNLÜ S., İNCİ A., OKUR İ., EZGÜ F. S., TAÇOY G., et al.

VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi 25-27 Kasım 2021 Çevrimiçi Kongre http://lizozomal2021.org/, Türkiye, 25 - 27 Kasım 2021, (Özet Bildiri)

32. 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)

33. Gastrointestinal Involvement at the Junction of Wolman Disease and COVID 19

ALTUN A., İNCİ A., KILIÇ A., Özsaydı Aktaşoğlu E., GÖKALP S., DEMİR F., et al.

14th International Congress Of Inborn Errors Of Metabolism, Sidney, Avustralya, 21 - 23 Kasım 2021, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

34. A PATIENT WITH ADENOSINE KINASE DEFICIENCY DUE TO A NOVEL MUTATION PRESENTING WITH NOVEL DYSMORPHIC AND CARDIAC FINDINGS

Aktaşoğlu E., Kılıç A., Emecan Şanlı M., GÖKALP S., İNCİ A., OKUR İ., et al.

14th International Congress of Inborn Errors of Metabolism 2021, Avustralya, 21 - 24 Kasım 2021, (Özet Bildiri)

35. Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim

ERTOY KARAGÖL H. İ., İNCİ A., Polat Tecere S., KILIÇ A., Demir F., YAPAR D., et al.

XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021, (Özet Bildiri)

36. Akut Porfiria Benzeri Periferik Nöropati Gelişen Tirozinemi Tip 1 Olgusu

AKKUZU E., ÖZEN DEMİRCİOĞLU P., İNCİ A., OKUR İ., EZGÜ F. S.

16. Çocuk Acil Tıp ve Yoğun Bakım Kongresi, Antalya, Türkiye, 2 - 05 Ekim 2019, ss.327-328, (Özet Bildiri)

37. 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)

38. 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

39. Next generation DNA sequencing as an initial diagnostic method for congenital defects of glycosylation

EZGÜ F. S., İNCİ A., Çiftçi B., TÜMER L., OKUR İ., Topçu B., et al.

SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 Eylül 2019, (Özet Bildiri)

40. 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)

41. Diyet tedavisine cevap veren HMG-CoA liyaz enzim eksikliği olan iki olgu

KOÇ N., KUYUCU A., GÜNDÜZ M., OKUR İ., ÖZAYDIN E.

Hacettepe Beslenme ve Diyetetik Günleri IV. Mezuniyet Sonrası Eğitim Kursu, Ankara, Türkiye, 27 - 29 Haziran 2019

42. Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal Storage Disease?

CENGİZ F. B., İNCİ A., BİBEROĞLU G., Çiftçi B., Topçu B., Tokgöz D., et al.

International Inborn Errors of Metabolism and Nutrition Congress, 10 - 14 Nisan 2019, (Tam Metin Bildiri)

43. 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

44. Cornelia de Lange Syndrome and Glycogen Storage Disease Together in a Patient

KILIÇ A., EMECAN ŞANLI M., ÖZSAYDI E., İNCİ A., OKUR İ., TÜMER L., et al.

Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)

45. 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)

46. Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site

Emecan Şanlı M., Özsaydı E., kılıç m., İNCİ A., OKUR İ., EZGÜ F. S., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)

47. Hyperinsulinemic Hypoglycemia: Think of GLUD1 Gene Mutation Leading To Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome

Emecan Şanlı M., kılıç m., Özsaydı E., İNCİ A., OKUR İ., TÜMER L., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)

48. Novel Mutation in Two Siblings with Normouricemic Lesch Nyhan Syndrome

Emecan Şanlı M., Özsaydı E., kılıç m., İNCİ A., OKUR İ., EZGÜ F. S., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)

49. Novel Mutation in FBP1 Gene Presenting with Recurrent Episodes of Vomiting in A Child

Emecan Şanlı M., kılıç m., Özsaydı E., İNCİ A., OKUR İ., EZGÜ F. S., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)

50. 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)

51. 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)

52. A Very Rare Disease: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (Hhh) Syndrome

Özsaydı E., Emecan Şanlı M., kılıç m., İNCİ A., OKUR İ., TÜMER L., et al.

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)

53. Hyperinsulinemic Hypoglycemia: Think of GLUD1 dgene mutation leading to Hyperinsulinemic hyperammonemia (HI/HA syndrome)

EMECAN ŞANLI M., KILIÇ A., AKTAŞOĞLU E., İNCİ A., OKUR İ., TÜMER L., et al.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)

54. Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)

Villarreal M. S., OKUR İ., Cleary M., Lopez M. J. d. C., Harmatz P., Lee J., et al.

15th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 4 - 07 Şubat 2019, cilt.126, (Özet Bildiri)

55. ICV-administered tralesinidase alfa (BMN 250 NAGLU-IGF2) is well-tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)

Cleary M., Muschol N., Luz Couce M., Harmatz P., Lee J., Lin S., et al.

15th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 4 - 07 Şubat 2019, cilt.126, (Özet Bildiri)

56. Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy

Guliyeva U., Dulac O., Okur İ., Khalilov O., Guliyeva S.

13th European Congress on Epileptology, Vienna, Avusturya, 26 - 30 Ağustos 2018, cilt.59, (Özet Bildiri)

57. 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)

58. 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)

59. Natural History Data for Young Subjects with Sanfilippo Syndrome Type B (MPS IIIB)

Okur İ., Cleary M., Lopez d. C. M., Harmatz P., Lee J., Lin S. P., et al.

47th Annual Meeting of the Child-Neurology-Society (CNS), Illinois, Amerika Birleşik Devletleri, 15 - 18 Ekim 2018, cilt.84, (Özet Bildiri)

60. ICV-administered BMN 250 (NAGLU-IGF2) is Well Tolerated and Reduces Heparan Sulfate Accumulation in the CNS of Subjects with Sanfilippo Syndrome Type B (MPS IIIB)

Muschol N., Cleary M., Couce M., Harmatz P., Lee J., Lin S. P., et al.

47th Annual Meeting of the Child-Neurology-Society (CNS), Illinois, Amerika Birleşik Devletleri, 15 - 18 Ekim 2018, cilt.84, (Özet Bildiri)

61. 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)

62. 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

63. 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

64. 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

65. 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

66. Natural history data for young subjects with Sanfilippo Syndrome Type B (MPS IIIB)

OKUR İ., Cleary M., de Castro Lopez M. J., Harmatz P., Lees J., Lin S., et al.

40th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), California, Amerika Birleşik Devletleri, 11 - 14 Mart 2018, cilt.123, ss.255-256, (Özet Bildiri)

67. Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)

Okur İ., Cleary M., de Castro Lopez M. J., Harmatz P., Lee J., Lin S., et al.

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, Amerika Birleşik Devletleri, 5 - 09 Şubat 2018, cilt.123, (Özet Bildiri)

68. 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)

69. 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)

70. 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)

71. 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)

72. 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)

73. 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)

74. 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)

75. İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

OKUR İ., İNCİ A., OLGAÇ M. A. B., ÇİFTÇİ B., TOPÇU B., TÜMER L., et al.

13th International Congress of Inborn Errors of Metabolism - ICIEM 2017, 5 - 08 Eylül 2017, cilt.5, (Özet Bildiri)

76. Tirozinemi İzlem ve Tedavi

OKUR İ.

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017, (Özet Bildiri)

77. Karbonhidrat Metabolizması Bozuklukları

OKUR İ.

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017, (Özet Bildiri)

78. THE HEMATOLOGIC FINDINGS OF INHERITED METABOLIC DISEASE; THEY ARE MORE THAN EXPECTED

Yenicesu I., Sal A. E., Okur İ., Kaya Z., Ezgu F. S., Kocak U., et al.

22nd Congress of the European-Hematology-Association, Madrid, İspanya, 22 - 25 Haziran 2017, cilt.102, ss.829-830, (Özet Bildiri)

79. 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)

80. Lizozomal Depo Hastalıklarında Nörolojik Bulgular ve Tedavileri

OKUR İ.

14.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)

81. Mukopoli̇sakkari̇dozlar: Tanı ve Tedavi̇de Güncel YaklaşImları

OKUR İ.

39. Pediatri Günleri ve 18. Pediatri Hemşireliği Günleri, Türkiye, 2 - 05 Nisan 2017, (Özet Bildiri)

82. Yenidoğanda Tarama Testleri

OKUR İ.

İlk 1000 gün 5. Kongresi, Türkiye, 19 - 22 Mart 2017, (Özet Bildiri)

83. Ai̇levi̇ Hi̇perkolesterolemi̇ Olan Türk Hastalarda LDLR Gen Mutasyonlarinin Araştırılması

OKUR İ., EZGÜ F. S., İNCİ A., OLGAÇ M. A. B., TÜMER L.

2. Ege Endokrı̇n Hastalıklar ve Genetı̇k Sempozyumu, Türkiye, 23 - 25 Şubat 2017, (Özet Bildiri)

84. 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)

85. 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)

86. ÇOCUKLARDA VİTAMİN VE MİNERAL DESTEĞİ

OKUR İ.

60. Türkiye Milli Pediatri Kongresi, Antalya, Türkiye, 9 - 13 Kasım 2016, (Özet Bildiri)

87. 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

88. 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)

89. 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

90. 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

91. 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)

92. 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)

93. 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