Prof. Dr. FATİH SÜHEYL EZGÜ

Yayın Ağı

Makaleler 208

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. 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

3. The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension

Canbeyli F. H., SEÇGEN K., EZGÜ F. S., TAÇOY G., ÜNLÜ S., Arabaci H. O., et al.

PEDIATRIC CARDIOLOGY , 2025 (SCI-Expanded) Sürdürülebilir Kalkınma

4. 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)

5. 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)

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. Gene Therapies: Any Merit in Nephrology?

Leventoğlu E., BAKKALOĞLU EZGÜ S. A., EZGÜ F. S.

Giornale Italiano di Nefrologia , cilt.42, sa.5, ss.48-54, 2025 (Scopus)

8. Association between CLOCK gene polymorphisms with circadian rhythm, chrononutrition, dietary intake, and metabolic parameters in adolescents

Uyar G. O., YILDIRAN H., Teker-Duztas D., DALGIÇ B., KARAKAŞ N. M., ÇAMURDAN M. O., et al.

FRONTIERS IN PUBLIC HEALTH , cilt.12, 2024 (SCI-Expanded)

9. Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution

Geramizadeh B., EZGÜ F. S., Beyzaei Z.

ORPHANET JOURNAL OF RARE DISEASES , cilt.19, sa.1, 2024 (SCI-Expanded)

10. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

Muntau A. C., Longo N., EZGÜ F. S., Schwartz I. V. D., Lah M., Bratkovic D., et al.

LANCET , cilt.404, sa.10460, ss.1333-1345, 2024 (SCI-Expanded)

11. 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

12. 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)

13. 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

14. 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

15. 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)

16. Efficacy and safety of oral sepiapterin in participants with phenylketonuria on sapropterin dihydrochloride at time of Phase 3 aphenity study entry

Zori R., Lah M., Offord S., Lund A., Opladen T., Peters H., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.141, sa.4, 2024 (SCI-Expanded)

17. Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study

BAKKALOĞLU EZGÜ S. A., BÜYÜKKARAGÖZ B., Pınarbaşı A. S., LEVENTOĞLU E., SAYGILI S. K., ÇOMAK E., et al.

NEPHROLOGY , cilt.29, sa.4, ss.201-213, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

18. Giant thymic cyst overclouding the diagnosis of fibrodysplasia ossificans progressiva: an inconvenient coincidence

KÜÇÜKALİ B., Tanidir M., Senol P. E., YILDIZ YILDIRIM Ç., KARAÇAYIR N., BELDER N., et al.

RHEUMATOLOGY , cilt.63, 2024 (SCI-Expanded)

19. Mucopolysaccharidosis type VII (Sly syndrome) - What do we know?

Grant C. L., Lopez-Valdez J., Marsden D., EZGÜ F. S.

MOLECULAR GENETICS AND METABOLISM , cilt.141, sa.3, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

20. 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

21. 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)

22. 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)

23. 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)

24. Variants of Fumarate Hydratase Gene in Uterine Disorders: A Clinical Trial

KAZANCI F., YÜKSEL D., EZGÜ F. S., ERDEM O., ONAN M. A.

Journal of Clinical Obstetrics & Gynecology , cilt.33, sa.2, ss.81-87, 2023 (ESCI)

25. Clinical characteristics of adult and paediatric patients with familial hypercholesterolemia: A real-life cross-sectional study from the Turkish National Database

Sonmez A., Demirci I., Haymana C., Tasci I., Ayvalı M. O., Ata N., et al.

Atherosclerosis , cilt.375, ss.9-20, 2023 (SCI-Expanded)

26. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)

Geberhiwot T., Wasserstein M., Wanninayake S., Bolton S. C., Dardis A., Lehman A., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.18, sa.1, 2023 (SCI-Expanded)

27. 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)

28. Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance

Beyzaei Z., EZGÜ F. S., Imanieh M. H., Haghighat M., Dehghani S. M., Honar N., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.36, sa.3, ss.331-334, 2023 (SCI-Expanded) Sürdürülebilir Kalkınma

29. Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective

Akgun A., Gokcay G., Mungan N. O., Sivri H. S., TEZER H., Zeybek C. A., et al.

Frontiers in Public Health , cilt.11, 2023 (SCI-Expanded)

30. 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) Sürdürülebilir Kalkınma

31. 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)

32. Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective

ARSLAN N., Coker M., GÖKÇAY G. F., KIYKIM E., Mungan H. N. O., EZGÜ F. S.

FRONTIERS IN PEDIATRICS , cilt.11, 2023 (SCI-Expanded)

33. Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration

Videnovic A., Pfeiffer H. C. V., Tylki-Szymańska A., Berry-Kravis E., EZGÜ F. S., Ganju J., et al.

Frontiers in Neurology , cilt.14, 2023 (SCI-Expanded)

34. Co-Occurring Atypical Galactosemia and Wilson Disease

Doğulu N., Köse E., Tuna Kırsaçlıoğlu C., Ezgü F. S., Kuloğlu Z., Kansu Tanca A., et al.

Molecular Syndromology , cilt.13, sa.5, ss.454-458, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

35. 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)

36. Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study

Harmatz P., Muenzer J., EZGÜ F. S., Dalen P., Huledal G., Lindqvist D., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.136, sa.4, ss.249-259, 2022 (SCI-Expanded)

37. 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)

38. 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)

39. A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature

Sevinc S., İNCİ A., EZGÜ F. S., EMİNOĞLU F. T.

MOLECULAR SYNDROMOLOGY , cilt.13, sa.3, ss.226-234, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

40. 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)

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

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

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.558, 2022 (SCI-Expanded)

42. 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)

43. Addressing the need for patient-friendly medical communications: adaptation of the 2019 recommendations for the management of MPS VI and MPS IVA

Bruce I. A., EZGÜ F. S., Kampmann C., Kenis V., Mackenzie W., Stevens B., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.17, sa.1, 2022 (SCI-Expanded)

44. Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

EZGÜ F. S., ALPSOY E., Bicik Bahcebasi Z., Kasapcopur O., PALAMAR ONAY M., Onay H., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.17, sa.1, 2022 (SCI-Expanded)

45. Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis

Beyzaei Z., Ezgu F. S., Imanieh M. H., Geramizadeh B.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.3, ss.417-420, 2022 (SCI-Expanded)

46. Safety of sebelipase alfa for the treatment of lysosomal acid lipase deficiency.

Ezgu F. S.

Expert opinion on drug safety , cilt.21, sa.2, ss.149-155, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma

47. A Patient with Recurrent Severe Hypoglycemic Attacks and Mitochondrial Complex III Deficiency, Nuclear Type 3: a Novel UQCRB Variant

Yekeduz M. K., Oncul U., Kose E., Ezgu F. S., EMİNOĞLU F. T.

MOLECULAR SYNDROMOLOGY , cilt.13, sa.1, ss.64-68, 2022 (SCI-Expanded)

48. 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)

49. The effect of a geometric-shaped tool with blue led light on the activation of human dermal fibroblasts and cancer cells

Kılıçarslan Törüner E., Kayhan H., Ezgu F. S.

Journal of Photochemistry and Photobiology , cilt.8, 2021 (Scopus)

50. 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)

51. 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)

52. 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)

53. The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Erdogan M., KÖSE M., PEKCAN S., HANGÜL M., Balta B., Kiraz A., et al.

Balkan medical journal , cilt.38, sa.6, ss.357-364, 2021 (SCI-Expanded, Scopus, TRDizin)

54. 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)

55. 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)

56. 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)

57. 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)

58. Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.

Sanchez-Lara P. A., Grand K., Haanpaa M. K., Curry C. J., Wang R., Ezgu F. S., et al.

American journal of medical genetics. Part A , cilt.185, sa.9, ss.2636-2645, 2021 (SCI-Expanded)

59. 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)

60. 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)

61. 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)

62. 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)

63. 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

64. Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature.

Beyzaei Z., Ezgu F. S., Geramizadeh B., Alborzi A., Shojazadeh A.

BMC pediatrics , cilt.21, sa.1, ss.175, 2021 (SCI-Expanded)

65. Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing.

Beyzaei Z., Ezgu F. S., Geramizadeh B., Imanieh M. H., Haghighat M., Dehghani S. M., et al.

Scientific reports , cilt.11, sa.1, ss.7040, 2021 (SCI-Expanded)

66. 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)

67. 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)

68. 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)

69. Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature.

Beyzaei Z., Ezgu F. S., Geramizadeh B., Alborzi A., Shojazadeh A.

BMC medical genomics , cilt.14, sa.1, ss.33, 2021 (SCI-Expanded)

70. 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)

71. 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)

72. Pierson Syndrome Characterized by Mild Renal Variant: A Case Report

BÜYÜKKARAGÖZ B., BAKKALOĞLU EZGÜ S. A., ÖZMEN M. C., EZGÜ F. S.

GAZI MEDICAL JOURNAL , cilt.32, sa.3, ss.461-463, 2021 (ESCI)

73. 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)

74. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative.

Hughes D. A., Aguiar P., Deegan P. B., Ezgu F. S., Frustaci A., Lidove O., et al.

BMJ open , cilt.10, sa.10, 2020 (SCI-Expanded)

75. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Kilic M., Dorum S., Topak A., Yazici M., EZGÜ F. S., COŞKUN T.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.182, sa.7, ss.1608-1614, 2020 (SCI-Expanded)

76. Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Damar Ç., Derinkuyu B. E., Olgaç Kiliçkaya M. A. B., Öztürk M., Öztunali Ç., Alimli A. G., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.50, sa.4, ss.1048-1061, 2020 (SCI-Expanded)

77. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation

Olgac A., Oztoprak U., Kasapkara Ç. S., Kilic M., Yuksel D., Derinkuyu E. B., et al.

Journal of Pediatric Endocrinology and Metabolism , cilt.33, sa.1, ss.165-170, 2020 (SCI-Expanded, Scopus)

78. 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)

79. 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)

80. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

ÇAĞDAŞ AYVAZ D. N., OSKAY HALAÇLI S., TAN Ç., Lo B., Cetinkaya P. G., Esenboga S., et al.

Journal of clinical immunology , cilt.39, sa.7, ss.726-738, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

81. 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)

82. 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)

83. The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Onan D., Yorulmaz A., EZGÜ F. S., HAYRAN K. M., Kulcu S., Artuz R. F., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.49, sa.1, ss.206-211, 2019 (SCI-Expanded)

84. Multicystic Dysplastic Kidney and Incontinentia Pigmenti: Coexistence of 2 Rare Diseases.

Sürmeli Döven S., Delibas A., Türsen Ü., Ezgü F. S.

Iranian journal of kidney diseases , cilt.13, sa.1, ss.67-70, 2019 (SCI-Expanded)

85. ASSOCIATION OF HEREDITARY FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS WITH BARTTER SYNDROME: A CASE REPORT

YAZICIOĞLU B., BÜYÜKKARAGÖZ B., Alpman B. N., IŞIK GÖNÜL İ., EZGÜ F. S., Buyan N., et al.

PEDIATRIC NEPHROLOGY , cilt.33, sa.10, ss.1972, 2018 (SCI-Expanded)

86. COMPLEMENT FACTOR B MUTATION IN ATYPICAL HEMOLYTICUREMIC SYNDROME; A CASE PRESENTATION

Tayfur A. C., Yilmaz A. C., Inan Y., Karaokur E., Buyukkaragoz B., Kocak M., et al.

PEDIATRIC NEPHROLOGY , cilt.33, sa.10, ss.1836-1837, 2018 (SCI-Expanded)

87. 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)

88. 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)

89. 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)

90. 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)

91. Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.

Jones S. A., Rojas-Caro S., Quinn A. G., Friedman M., Marulkar S., Ezgu F. S., et al.

Orphanet journal of rare diseases , cilt.12, sa.1, ss.25, 2017 (SCI-Expanded)

92. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey

Isiyel E., BAKKALOĞLU EZGÜ S. A., ÇALIŞKAN S., AKMAN S., AKİL İ., TABEL Y., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.119, sa.4, ss.311-316, 2016 (SCI-Expanded)

93. Effect of Cytokine Signaling 3 Gene Polymorphisms in Childhood Obesity.

Boyraz M., Yesilkaya E., Ezgu F. S., BİDECİ A., Dogan H., ULUCAN K., et al.

Journal of clinical research in pediatric endocrinology , cilt.8, sa.4, ss.452-460, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma

94. Early severe anemia as the first sign of cystic fibrosis

Şişmanlar Eyüboğlu T., Aslan A. T., Köse M., Pekcan S., Ezgü F. S., Budakoğlu I. İ., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.175, sa.9, ss.1157-1163, 2016 (SCI-Expanded, Scopus)

95. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain D. P., Hughes D. A., Nicholls K., Bichet D. G., Giugliani R., Wilcox W. R., et al.

The New England journal of medicine , cilt.375, sa.6, ss.545-55, 2016 (SCI-Expanded)

96. Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Montano A. M., Lock-Hock N., Steiner R. D., Graham B. H., Szlago M., Greenstein R., et al.

Journal of medical genetics , cilt.53, sa.6, ss.403-18, 2016 (SCI-Expanded)

97. A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency

ADIŞEN E., Erduran F. B., EZGÜ F. S., Kasapkara Ç. S., Besio R., Forlino A., et al.

INTERNATIONAL JOURNAL OF LOWER EXTREMITY WOUNDS , cilt.15, sa.1, ss.86-91, 2016 (SCI-Expanded, Scopus)

98. Inborn Errors of Metabolism

Ezgu F. S.

ADVANCES IN CLINICAL CHEMISTRY, VOL 73 , cilt.73, ss.195-250, 2016 (SCI-Expanded)

99. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Burton B. K., Balwani M., Feillet F., Baric I., Burrow T. A., Camarena Grande C., et al.

NEW ENGLAND JOURNAL OF MEDICINE , cilt.373, sa.11, ss.1010-1020, 2015 (SCI-Expanded)

100. 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)

101. A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome

YİŞ U., EZGÜ F. S., Karakaya P., Polat I., ARSLAN N., ÇANKAYA T., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.30, sa.3, ss.378-381, 2015 (SCI-Expanded)

102. A CASE WITH RARE TYPE OF CONGENITAL DISORDER OF GLYCOSYLATION: PGM1-CDG

Kucukcongar A., Tumer L., EZGÜ F. S., Kasapkara Ç. S., Jaeken J., Matthijs G., et al.

GENETIC COUNSELING , cilt.26, sa.1, ss.87-90, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

103. Situs inversus of the fibula: medialized fibula

ATALAR H., TURANLI S., Atik O. S., Kaptan A. Y., Ezgu F. S.

EKLEM HASTALIKLARI VE CERRAHISI-JOINT DISEASES AND RELATED SURGERY , cilt.26, sa.1, ss.60-62, 2015 (SCI-Expanded)

104. Results of a Global Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Sebelipase Alfa as an Enzyme Replacement Therapy in Children and Adults with Lysosomal Acid Lipase Deficiency

Balwani M., Burton B., Baric I., Bialer M., Burrow T. A., Camarena Grande C., et al.

HEPATOLOGY , cilt.60, sa.6, 2014 (SCI-Expanded)

105. Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters

Damar C., Boyunaga Ö. L., Derinkuyu B. E., Battaloglu N., EZGÜ F. S.

SKELETAL RADIOLOGY , cilt.43, sa.11, ss.1651-1654, 2014 (SCI-Expanded)

106. Mutation Analysis Of Primary Hyperoxaluria Type 1

Isiyel E., BAKKALOĞLU EZGÜ S. A., EZGÜ F. S., ÇALIŞKAN S., AKMAN S., AKİL İ., et al.

PEDIATRIC NEPHROLOGY , cilt.29, sa.9, ss.1828, 2014 (SCI-Expanded)

107. 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)

108. Desensitisation of the youngest patient with Pompe disease in response to alglucosidase alfa

Karagol I. H. E., Bakirtas A., Yilmaz O., Topal E., Kucukcongar A., Ezgu F. S., et al.

ALLERGOLOGIA ET IMMUNOPATHOLOGIA , cilt.42, sa.4, ss.372-375, 2014 (SCI-Expanded)

109. Phenotype-genotype correlations in patients with Marinesco-Sjogren syndrome

Ezgu F. S., Krejci P., Li S., de Sousa C., Graham J. M., Hansmann I., et al.

CLINICAL GENETICS , cilt.86, sa.1, ss.74-84, 2014 (SCI-Expanded)

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

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

TURKISH JOURNAL OF PEDIATRICS , cilt.56, sa.4, ss.418-422, 2014 (SCI-Expanded)

111. Recent advances in the molecular diagnosis of inborn errors of metabolism

Ezgu F. S.

CLINICAL BIOCHEMISTRY , cilt.47, sa.9, ss.759-760, 2014 (SCI-Expanded)

112. Crimean-congo haemorrhagic fever in pregnancy and in newborn: A case with a unique clinical course

Unlusoy-Aksu A., Havali C., Tapisiz A., Aktas F., Ezgu F. S.

JOURNAL OF OBSTETRICS AND GYNAECOLOGY , cilt.34, sa.4, ss.360-361, 2014 (SCI-Expanded)

113. 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)

114. 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)

115. 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)

116. Rapid Molecular Diagnosis of Genetic Diseases by High Resolution Melting Analysis: Fabry and Glycogen Storage 1A Diseases

Ezgu F. S., Divanoglu Y., Polat M., Bahceci S., Hasanoglu A., Desnick R. J.

GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.18, sa.1, ss.3-7, 2014 (SCI-Expanded)

117. 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

118. Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

Ezgu F. S., Senaca S., Gunduz M., Turner L., Hasanoglu A., Tiras U., et al.

GENE , cilt.528, sa.2, ss.364-366, 2013 (SCI-Expanded)

119. 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)

120. 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)

121. 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

122. Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene

Ezgu F. S., Krejci P., Wilcox W. R.

GENE , cilt.524, sa.2, ss.403-406, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

123. 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)

124. 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)

125. Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation

Eminoglu T. F., Polat E., Gokce S., EZGÜ F. S., Senel S., Apaydin S.

INDIAN JOURNAL OF PEDIATRICS , cilt.80, sa.6, ss.502-504, 2013 (SCI-Expanded)

126. Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray

Eminoglu T. F., Ezgu F. S., Hasanoglu A., Tumer L.

GENE , cilt.518, sa.2, ss.346-350, 2013 (SCI-Expanded)