Prof. Dr. LEYLA TÜMER

Yayın Ağı

Makaleler 102

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)

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)

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) Sürdürülebilir Kalkınma

4. The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder

KÖSE E., İNCİ A., Yazıcı H., ZÜBARİOĞLU T., KILAVUZ S., ÇIKI K., et al.

European Journal of Pediatrics , cilt.184, sa.6, 2025 (SCI-Expanded)

5. Effect of empagliflozin treatment on laboratory and clinical findings of patients with glycogen storage disease type Ib: first study from Türkiye

KÖSE E., Özçay F., Aydın H. İ., KASAPKARA Ç. S., İNCİ A., Yavaş A. K., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.38, sa.4, ss.391-398, 2025 (SCI-Expanded)

6. 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)

7. 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)

8. Quality of Life and Related Factors in Patients Diagnosed with Mucopolysaccharidosis and Their Caregivers

Yekedüz M. K., Çilesiz K., Kara İ. S., İnci A., Köse E., Tümer L., et al.

KLINISCHE PADIATRIE , 2024 (SCI-Expanded)

9. Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease

Civelek-Urey B., Kasapkara Ç. S., BİBEROĞLU G., Oktem R. M., Gunduz M., Kireker-Koylu O., et al.

KLINISCHE PADIATRIE , cilt.237, sa.4, ss.214-219, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

10. 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) Sürdürülebilir Kalkınma

11. 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)

12. Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

Koç Yekedüz M., KÖSE E., İNCİ A., Yüksel M. F., DOĞULU N., Şen Akova B., et al.

Pediatric Neurology , cilt.155, ss.171-176, 2024 (SCI-Expanded)

13. 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)

14. Advances in Immune Tolerance Induction in Enzyme Replacement Therapy

İNCİ A., Ezgue F. S., TÜMER L.

PEDIATRIC DRUGS , cilt.26, sa.3, ss.287-308, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

15. 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) Sürdürülebilir Kalkınma

16. Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

KÖSE E., KASAPKARA Ç. S., İNCİ A., YILDIZ Y., Sürücü Kara İ., Kahraman A. B., et al.

European Journal of Medical Genetics , cilt.68, 2024 (SCI-Expanded)

17. Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease? Steht die Aktivität der lysosomalen sauren Lipase in Zusammenhang mit dem Vorliegen und dem Schweregrad einer koronaren Herzkrankheit?

Kızıltunç E., Gökalp S., Biberoğlu G., Yalçın Y., Cihan B., Öktem R. M., et al.

Herz , cilt.49, sa.1, ss.75-80, 2024 (SCI-Expanded)

18. 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) Sürdürülebilir Kalkınma

19. A 7-year-old boy with scurvy owing to coeliac disease

Küçükalİ B., Bayrak H., Yıldırım D., İnci A., Bakkaloğlu S. A., Tümer L.

PAEDIATRICS AND INTERNATIONAL CHILD HEALTH , cilt.44, sa.2, ss.63-67, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

20. 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)

21. 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)

22. 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)

23. Gaucher Hastalığı olan Olgularda SARS-CoV-2 enfeksiyonu

Civelek Urey B., KASAPKARA Ç. S., İNCİ A., GÜNDÜZ M., özkaya parlakay a., olgaç a., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY AND METABOLISM , cilt.5, 2023 (SCI-Expanded, Scopus)

24. 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)

25. 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)

26. 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)

27. 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 (Hakemli Dergi)

28. Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?

Tas O., Kontbay T., DOĞAN Ö., KÖSE E., BERBEROĞLU M., ŞIKLAR Z., et al.

KLINISCHE PADIATRIE , cilt.234, ss.221-227, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

29. 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)

30. 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)

31. Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

Oncel I., Yousefi M., İNCİ A., ARSLAN GÜLTEN Z., TEKE KISA P., Karaca M., et al.

MEDICAL HYPOTHESES , cilt.160, 2022 (SCI-Expanded)

32. 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)

33. 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)

34. 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)

35. 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)

36. 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)

37. 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)

38. 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)

39. 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)

40. 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)

41. 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)

42. 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)

43. 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)

44. 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

45. The intersection of two global problems: Refugees and inborn errors of metabolism

OLGAÇ KILIÇKAYA M. A. B., Gülenç N., KASAPKARA Ç. S., KILIÇ M., ŞENEL S., TÜMER L.

Annals of Medical Research , cilt.28, sa.2, ss.296-302, 2021 (TRDizin)

46. 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)

47. 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)

48. 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)

49. 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)

50. A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Kasapkara Ç. S., TÜMER L., Gregory A., Ezgu F. S., İNCİ A., Derinkuyu B. E., et al.

Acta neurologica Belgica , cilt.119, sa.4, ss.623-625, 2019 (SCI-Expanded, Scopus)

51. 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)

52. A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA

Olgac A., Orgun T. L., Ezgu F. S., Biberoglu G., Tumer L.

BALKAN JOURNAL OF MEDICAL GENETICS , cilt.22, sa.2, ss.93-96, 2019 (SCI-Expanded)

53. 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)

54. 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)

55. 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)

56. 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)

57. "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)

58. Acute Stroke in a Patient with Mucopolysaccharidosis Type I with Increased Carotid Intima-Media Thickness

Olgac A., TÜMER L., Damar C., Hasanoglu A., Ezgu F. S.

EURASIAN JOURNAL OF MEDICINE AND ONCOLOGY , cilt.2, sa.2, ss.114-116, 2018 (ESCI)

59. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Kasapkara Ç. S., TÜMER L., Zanetti N., Ezgu F. S., Lamantea E., Zeviani M.

Turkish journal of haematology : official journal of Turkish Society of Haematology , cilt.34, sa.4, ss.376-377, 2017 (SCI-Expanded, Scopus, TRDizin)

60. 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)

61. 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 (Hakemli Dergi)

62. 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

63. 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) Sürdürülebilir Kalkınma

64. Secondary Hemophagocytosis in Propionic Acidemia

Kasapkara Ç. S., Kangin M., Ozmen B. O., Ozbek M. N., Demir R., Karatas M., et al.

IRANIAN JOURNAL OF PEDIATRICS , cilt.25, sa.3, 2015 (SCI-Expanded, Scopus)

65. Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia

Olgac A., TÜMER L., Boyunaga Ö. L., Kizilkaya M., Hasanoglu A.

JOURNAL OF TROPICAL PEDIATRICS , cilt.61, sa.2, ss.146-150, 2015 (SCI-Expanded)

66. BCS1L gene mutation causing GRACILE syndrome: case report

Kasapkara Ç. S., TÜMER L., EZGÜ F. S., Kucukcongar A., Hasanoglu A.

RENAL FAILURE , cilt.36, sa.6, ss.953-954, 2014 (SCI-Expanded, Scopus)

67. 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)

68. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras R., Chiappe F., La Torraca I., Buers I., Usala G., Angius A., et al.

HUMAN MUTATION , cilt.35, sa.4, ss.424-433, 2014 (SCI-Expanded, Scopus)

69. Home sleep study characteristics in patients with mucopolysaccharidosis

Kasapkara Ç. S., TÜMER L., ASLAN A. T., Hasanoglu A., EZGÜ F. S., Kucukcongar A., et al.

SLEEP AND BREATHING , cilt.18, sa.1, ss.143-149, 2014 (SCI-Expanded, Scopus)

70. Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Ezgu F. S., Ciftci B., Topcu B., Adiyaman G., Gokmenoglu H., Kucukcongar A., et al.

METABOLIC BRAIN DISEASE , cilt.29, sa.1, ss.211-213, 2014 (SCI-Expanded, Scopus)

71. Continuous glucose monitoring in children with glycogen storage disease type I

KASAPKARA Ç. S., Demir G. C., Hasanoglu A., TÜMER L.

EUROPEAN JOURNAL OF CLINICAL NUTRITION , cilt.68, sa.1, ss.101-105, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

72. Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Gucuyener K., Kasapkara Ç. S., TÜMER L., Verbeek M. M.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY , cilt.17, sa.2, ss.234-236, 2014 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

73. Dislipidemilerde Beslenme Özellikleri

TÜMER L., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatrik Bilimler Dergisi , cilt.10, sa.3, ss.34-43, 2014 (Hakemli Dergi)

74. 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

75. DGUOK-Related Mitochondrial DNA Depletion Syndrome in a Child With an Early Diagnosis of Glycogen Storage Disease

Kasapkara Ç. S., TÜMER L., Kuecuekcongar A., Hasanoglu A., Seneca S., De Meirleir L.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION , cilt.57, sa.5, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

76. Sleep study characteristics in patients with mucopolysaccharidosis

ASLAN A. T., Kasapkara Ç. S., TÜMER L., Hasanoglu A., Ezgu F. S.

EUROPEAN RESPIRATORY JOURNAL , cilt.42, 2013 (SCI-Expanded, Scopus)

77. 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)

78. 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) Sürdürülebilir Kalkınma

79. 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)

80. Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia

Kucukcongar A., Yenicesu I., TÜMER L., Kasapkara Ç. S., EZGÜ F. S., Pasaoglu O., et al.

TRANSFUSION AND APHERESIS SCIENCE , cilt.48, sa.3, ss.391-396, 2013 (SCI-Expanded, Scopus)

81. Rhabdomyolysis and acute kidney injury in two children: Questions

Fidan K., Kandur Y., TÜMER L., Hasanoglu A., Soylemezoglu O.

PEDIATRIC NEPHROLOGY , cilt.28, sa.6, ss.899-902, 2013 (SCI-Expanded)

82. 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

83. AN EXTREMELY RARE CASE: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA

Kasapkara Ç. S., Kucukcongar A., BOYUNAGA Ö. L., Bedir T., Oncu F., Hasanoglu A., et al.

GENETIC COUNSELING , cilt.24, sa.1, ss.69-74, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

84. Çocuklarda Hiperlipidemi Taraması

TÜMER L., KASAPKARA Ç. S.

Türkiye Klinikleri Pediatri Dergisi , cilt.22, sa.4, ss.171-177, 2013 (Hakemli Dergi)

85. SRD5A3-CDG: A patient with a novel mutation

Kasapkara Ç. S., TÜMER L., EZGÜ F. S., Hasanoglu A., Race V., Matthijs G., et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.16, sa.5, ss.554-556, 2012 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

86. 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)

87. 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)

88. 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)

89. Frequency of vitamin D insufficiency in healthy children between 1 and 16 years of age in Turkey

Akman A. O., TÜMER L., Hasanoglu A., Ilhan M. N., Cayci B.

PEDIATRICS INTERNATIONAL , cilt.53, sa.6, ss.968-973, 2011 (SCI-Expanded, Scopus)

90. 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)

91. A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition

Oguz S. S., Ergenekon E., TÜMER L., KOÇ E., Turan O., Onal E. E., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.24, sa.9-10, ss.843-845, 2011 (SCI-Expanded, Scopus)

92. 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)

93. 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)

94. 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)

95. 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)

96. 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)

97. 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)

98. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

Baris Z., Eminoglu T., DALGIÇ B., TÜMER L., Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.169, sa.11, ss.1375-1378, 2010 (SCI-Expanded)

99. 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)

100. 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)

101. 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) Sürdürülebilir Kalkınma

102. 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)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 97

1. Mukopolisakkaridoz Tanılı Hastaların ve Bakım Verenlerinin Yaşam Kalitesi ve İlgili Faktörler

KOÇ YEKEDÜZ M., ÇİLESİZ K., SÜRÜCÜ KARA İ., İNCİ A., KÖSE E., TÜMER L., et al.

XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Türkiye, 28 Nisan - 02 Mayıs 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. 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)

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. 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)

6. 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)

7. Long-term Clinical Evaluation of Patients with Alpha-mannosidosis – A Multicenter Study

Köse E., Kasapkara Ç. S., İnci A., Yıldız Y., Surucu Kara L., Kahraman A. B., et al.

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

8. 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)

9. 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)

10. 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)

11. Metabolik Hastalıklarda EEG Paternleri: Diagnostik Önemi ve Klinik Yararı (PP-222) "EEG Patterns In Metabolic Diseases: Diagnostic Significance and Clinical Utility (PP-222)"

Kılıç R. K., Hırfanoğlu T., Kılıç A., Tümer L., Arhan E.

24. Ulusal Çocuk Nörolojisi Kongresi , Muğla, Türkiye, 17 - 21 Mayıs 2023, cilt.1, ss.397, (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. 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)

14. 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)

15. 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)

16. 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)

17. Kalıtsal metabolik hastalık tanısı ile takıp edılen hastalın solunum sıstemı bulguları

HOCOĞLU Z. İ., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., ASLAN A. T., TÜMER L.

Türk Toraks Derneği 24. Yıllık Kongre 2021, Türkiye, 17 Kasım 2021, (Tam Metin Bildiri)

18. Respiratory system involvement and follow-up of children with inherited metabolic diseases

HOCOĞLU Z. İ., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., ASLAN A. T., TÜMER L.

European Respiratory Virtual Congress 2021, İspanya, 5 - 08 Eylül 2021, (Özet Bildiri)

19. 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)

20. 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)

21. 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)

22. 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)

23. Asemptomatik Transaminaz Yüksekliğinden Son Dönem Karaciğer Hasarına: Kalıtsal Safra Asit Sentez Bozuklukları

CEYLAN K., TEKER DÜZTAŞ D., SARI S., EĞRİTAŞ GÜRKAN Ö., Vilarinho S., Clayton P., et al.

13. Ulusal Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Kongresi (Dijital Kongre), Türkiye, 19 Mayıs 2021, (Özet Bildiri)

24. 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)

25. 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

26. 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)

27. 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)

28. 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)

29. 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

30. 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)

31. 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)

32. 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)

33. 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)

34. 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)

35. 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)

36. A Novel Rars2 Mutation in Two Siblings with Microcephaly, Seizures and Liver Involvement

EMİNOĞLU F. T., Sevinç S., Karaköse Gök T., EZGÜ F. S., İNCİ A., TÜMER L.

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

37. 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)

38. 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)

39. RAR2mutation in two siblingswith microcephaly,seizures and liver involvement

EMİNOĞLU F. T., s s., gök t., EZGÜ F. S., İNCİ A., TÜMER L.

15 th MEMG, Beyrut, Lübnan, 29 Kasım - 02 Aralık 2018, (Özet Bildiri)

40. 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)

41. 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)

42. 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

43. 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)

44. 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

45. 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

46. 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

47. 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)

48. 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)

49. 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)

50. 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)

51. 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)

52. 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)

53. 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)

54. Niemann Pick type C diagnostic methods and survey: National Intervention-Free INSPECT registration study protocolpresentation

ARDIÇLI D., ÖNENLİ MUNGAN H. N., ÇOKER M., TÜMER L., GÜNDÜZ M., TOPALOĞLU TEKTÜRK P., et al.

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

55. 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)

56. 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)

57. 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)

58. 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)

59. 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)

60. 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

61. 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)

62. 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

63. 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

64. 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)

65. 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

66. 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)

67. Evaluation of vitamin D levels in paediatric cancer patients

KARADENİZ C., Bilgin N., PAŞAOĞLU Ö. T., PINARLI F. G., OKUR A., PAŞAOĞLU H., et al.

48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, İrlanda, 19 - 22 Ekim 2016, (Özet Bildiri) Sürdürülebilir Kalkınma