Prof. Dr. TURGAY COŞKUN

Yayın Ağı

Makaleler 100

1. Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

KAHRAMAN A. B., ÇIKI K., POŞUL B., Guvercin M., YILDIZ Y., DURSUN A., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.67, sa.2, ss.175-185, 2025 (SCI-Expanded, Scopus, TRDizin)

2. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort

AKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , sa.4, ss.399-405, 2025 (SCI-Expanded, Scopus)

3. Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes

ILGAZ F., Hoeller A., Marsaux C., Banta-Wright S., COŞKUN T., Dingess K. A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , sa.2, 2025 (SCI-Expanded, Scopus)

4. High prevalence of low bone mineral density in young adults with phenylketonuria

ÇIKI K., KAHRAMAN A. B., AKAR H. T., YILDIZ Y., DURSUN A., Tokatli A., et al.

POSTGRADUATE MEDICINE , sa.1, ss.86-92, 2025 (SCI-Expanded, Scopus)

5. Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity

Pinto A., Ahring K., Almeida M. F., Ashmore C., Belanger-Quintana A., Burlina A., et al.

NUTRIENTS , cilt.16, sa.17, 2024 (SCI-Expanded, Scopus)

6. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

Pinto A., Ahring K., Almeida M. F., Ashmore C., Belanger-Quintana A., Burlina A., et al.

NUTRIENTS , cilt.16, sa.13, 2024 (SCI-Expanded, Scopus)

7. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

YILDIZ Y., Ardıçlı D., GÖÇMEN R., YALNIZOĞLU D., Topçu M., Coşkun T., et al.

European Journal of Paediatric Neurology , cilt.49, ss.66-72, 2024 (SCI-Expanded, Scopus)

8. Why Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detail

Ozturk G. K., KORKMAZ TOYGAR A., ÇELİK H. T., YİĞİT Ş., YURDAKÖK M., COŞKUN T.

JOURNAL OF PEDIATRIC RESEARCH , cilt.11, sa.1, ss.17-24, 2024 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma

9. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

ÇIKI K., YILDIZ Y., KAHRAMAN A. B., ÖZGÜL R. K., COŞKUN T., DURSUN A., et al.

Molecular Genetics and Metabolism , cilt.140, sa.3, 2023 (SCI-Expanded, Scopus)

10. Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism

ÜNSAL Y., YURDAKÖK M., YİĞİT Ş., ÇELİK H. T., DURSUN A., SİVRİ H. S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.11, ss.1345-1356, 2022 (SCI-Expanded, Scopus)

11. Recommendations on phenylketonuria in Turkey

COŞKUN T., ÇOKER M., Mungan N. O., GÖKMEN ÖZEL H., SİVRİ H. S.

TURKISH JOURNAL OF PEDIATRICS , cilt.64, sa.3, ss.413-434, 2022 (SCI-Expanded, Scopus, TRDizin)

12. A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

Semeraro M., Sacchetti E., Deodato F., COŞKUN T., LAY İ., Catesini G., et al.

Orphanet Journal of Rare Diseases , cilt.16, sa.1, 2021 (SCI-Expanded, Scopus)

13. Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center

ÇELEN YOLDAŞ T., BİLGİNER GÜRBÜZ B., AKAR H. T., ÖZMERT E. N., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.5, ss.767-779, 2021 (SCI-Expanded, Scopus)

14. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., ÖZGÜL R. K., KOŞUKCU C., DURSUN A., SİVRİ H. S., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.4, ss.691-696, 2021 (SCI-Expanded, Scopus, TRDizin)

15. Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients

BİLGİNER GÜRBÜZ B., AYPAR E., ALEHAN D., TOKATLI A., COŞKUN T., DURSUN A., et al.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.2, ss.195-201, 2021 (ESCI, TRDizin)

16. Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy

BİLGİNER GÜRBÜZ B., AYKAN H. H., ÇIKI K., KARAGÖZ T., Sivri S., DURSUN A., et al.

CUKUROVA MEDICAL JOURNAL , cilt.46, sa.4, ss.1419-1425, 2021 (ESCI, TRDizin)

17. Molecular etiology of isolated congenital cataract using next-generation sequencing: Single center exome sequencing data from Turkey

Taylan Şekeroğlu H., Karaosmanoğlu B., Taşkıran E. Z., Şimşek Kiper P. Ö., Alikaşifoğlu M., Boduroğlu O. K., et al.

Molecular Syndromology , cilt.11, ss.302-308, 2020 (SCI-Expanded, Scopus)

18. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients

BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.11, 2020 (SCI-Expanded, Scopus)

19. 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. U., EZGÜ F. S., COŞKUN T.

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

20. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department

YILDIZ Y., Akcan Yildiz L., DURSUN A., TOKATLI A., COŞKUN T., TEKŞAM Ö., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.179, sa.7, ss.1107-1114, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

21. Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay

Hızal M., Yeke B., YILDIZ Y., Öztürk A., Gürbüz B. B., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.62, sa.3, ss.474-478, 2020 (SCI-Expanded, Scopus, TRDizin)

22. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

YILDIZ Y., Arslan M., Celik G., Kasapkara C. S., Ceylaner S., DURSUN A., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded, Scopus)

23. Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country

ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.

JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS , cilt.41, sa.3, ss.195-202, 2020 (SCI-Expanded, SSCI, Scopus)

24. Oral health status of children with phenylketonuria

BALLIKAYA E., YILDIZ Y., SİVRİ H. S., TOKATLI A., DURSUN A., Olmez S., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.3, ss.361-365, 2020 (SCI-Expanded, Scopus)

25. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

YILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., et al.

PEDIATRIC NEUROLOGY , cilt.99, ss.69-75, 2019 (SCI-Expanded, Scopus)

26. The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

BİLGİNER GÜRBÜZ B., AYPAR E., COŞKUN T., ALEHAN D., DURSUN A., TOKATLI A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.32, sa.10, ss.1049-1053, 2019 (SCI-Expanded, Scopus)

27. Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital

ÖZCAN H. N., KARÇAALTINCABA M., Pektas E., SİVRİ H. S., OĞUZ B., DURSUN A., et al.

EUROPEAN JOURNAL OF RADIOLOGY , cilt.116, ss.41-46, 2019 (SCI-Expanded, Scopus)

28. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Muntau A. C., Adams D. J., Belanger-Quintana A., Bushueva T. V., Cerone R., Chien Y., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.127, sa.1, ss.1-11, 2019 (SCI-Expanded, Scopus)

29. Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature

Sprute R., ARDIÇLI D., Oguz K. K., Malenica-Mandel A., Daimagueler H., Koy A., et al.

HUMAN GENOME VARIATION , cilt.6, 2019 (ESCI, Scopus)

30. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency

TOPALOĞLU R., Inozu M., GÜLHAN B., BİLGİNER GÜRBÜZ B., TALİM B., COŞKUN T.

NEPHRON , cilt.142, sa.3, ss.258-263, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

31. TWO CASES WITH DIVERSE COURSE OF AHUS RELATED TO COBALAMIN C DEFECT

Inozu M., GÜLHAN B., TOKATLI A., COŞKUN T., TOPALOĞLU R.

PEDIATRIC NEPHROLOGY , cilt.33, sa.10, ss.1848, 2018 (SCI-Expanded, Scopus)

32. The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia

Burlina A., Tims S., van Spronsen F., Sperl W., Burlina A. P., Kuhn M., et al.

EXPERT OPINION ON ORPHAN DRUGS , cilt.6, sa.11, ss.683-692, 2018 (SCI-Expanded, Scopus)

33. Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey

Kilic M., DURSUN A., COŞKUN T., TOKATLI A., ÖZGÜL R. K., YUCEL-YILMAZ D., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.173, sa.11, ss.2954-2967, 2017 (SCI-Expanded, Scopus)

34. Deoxyguanosine kinase deficiency: a report of four patients

Unal O., ÖZTÜRK HİŞMİ B., KILIÇ M., HIZARCIOĞLU GÜLŞEN H., COŞKUN T., Sivri S. H., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.30, sa.6, ss.697-702, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

35. Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay

EL MOUSTAFA K., Sivri S., KARAHAN S., COŞKUN T., Akblyik F., LAY İ.

CLINICA CHIMICA ACTA , cilt.464, ss.72-78, 2017 (SCI-Expanded, Scopus)

36. Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., Sivri S.

GYNECOLOGICAL ENDOCRINOLOGY , cilt.33, sa.1, ss.19-20, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

37. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Olsen R. K. J., Konarikova E., Giancaspero T. A., Mosegaard S., Boczonadi V., Matakovic L., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.98, sa.6, ss.1130-1145, 2016 (SCI-Expanded, Scopus)

38. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Huemer M., Carvalho D. R., Brum J. M., Unal O., COŞKUN T., Weisfeld-Adams J. D., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.39, sa.3, ss.331-340, 2016 (SCI-Expanded, Scopus)

39. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Gizewska M., MacDonald A., Belanger-Quintana A., Burlina A., Cleary M., COŞKUN T., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.175, sa.2, ss.261-272, 2016 (SCI-Expanded, Scopus)

40. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

ÖZGÜR HOROZ Ö., Mungan N. O., Yildizdas D., Herguner O., Ceylaner S., KOR D., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.29, sa.2, ss.227-231, 2016 (SCI-Expanded, Scopus)

41. Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I

Atceken N., ÖZGÜL R. K., Yilmaz D. Y., TOKATLI A., COŞKUN T., SİVRİ H. S., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.46, sa.2, ss.404-408, 2016 (SCI-Expanded, Scopus, TRDizin)

42. Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S.

TURKISH JOURNAL OF PEDIATRICS , cilt.58, sa.1, ss.94-96, 2016 (SCI-Expanded, Scopus, TRDizin)

43. A Nonvirilized form of Classic 3 beta-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

ALİKAŞİFOĞLU A., Buyukyilmaz G., GÖNÇ E. N., ÖZÖN Z. A., KANDEMİR N., DÜNDAR M., et al.

HORMONE RESEARCH IN PAEDIATRICS , cilt.86, ss.281, 2016 (SCI-Expanded, Scopus)

44. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

ÖZLEM U., GÖKMEN ÖZEL H., COŞKUN T., ÖZGÜL R. K., YÜCEL YILMAZ D., BURCU H., et al.

Turkish Journal Of Pediatrics , ss.213-218, 2015 (SCI-Expanded, Scopus, TRDizin)

45. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

KARACA M., ÖZGÜL R. K., ÜNAL O., Yucel-Yilmaz D., KILIÇ M., Hismi B., et al.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded, Scopus)

46. Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi

AYKAN H. H., ÖZGÜL R. K., Güzel A., COŞKUN T., DURSUN A.

Türkiye Çocuk Hastalıkları Dergisi , cilt.9, sa.3, ss.176-183, 2015 (SCI-Expanded, Scopus, TRDizin)

47. Conventional and advanced MR imaging in infantile Refsum disease

KILIÇ M., Karli-Oguz K., Haliloglu G., TOPÇU M., Wanders R. J., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.57, sa.3, ss.294-299, 2015 (SCI-Expanded, Scopus, TRDizin)

48. Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

TAYLAN ŞEKEROĞLU H., ÖZTÜRK HİŞMİ B., KADAYIFÇILAR S., COŞKUN T.

JOURNAL OF AAPOS , cilt.19, sa.1, ss.80-82, 2015 (SCI-Expanded, Scopus)

49. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.

ÜNAL Ö., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., TOKATLI A., SİVRİ H. S., et al.

Turkish Journal Of Pediatrics , cilt.57, ss.388-393, 2015 (SCI-Expanded, Scopus, TRDizin)

50. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

ÖZGÜL R. K., Karaca M., Kilic M., KUCUK O., YUCEL-YILMAZ D., UNAL O., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded, Scopus)

51. A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings

KILIÇ E., KILIÇ M., ÜTİNE G. E., Sivri S., COŞKUN T., ALANAY Y.

TURKISH JOURNAL OF PEDIATRICS , cilt.56, sa.4, ss.430-433, 2014 (SCI-Expanded, Scopus)

52. Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway

GONULDAS B., YILMAZ T., SİVRİ H. S., GÜÇER K. Ş., KILINC K., GENÇ G. A., et al.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY , cilt.78, sa.6, ss.944-949, 2014 (SCI-Expanded, Scopus)

53. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Karaca M., Hismi B., ÖZGÜL R. K., Karaca S., Yilmaz D. Y., COŞKUN T., et al.

GENE , cilt.534, sa.2, ss.197-203, 2014 (SCI-Expanded, Scopus)

54. Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu S., van Karnebeek C., Longo N., Korenke G. C., Mercimek-Mahmutoglu S., Marquart I., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.111, sa.1, ss.16-25, 2014 (SCI-Expanded, Scopus)

55. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance

Unal O., COŞKUN T., ORHAN D., Tokatl A., DURSUN A., ÖZTÜRK HİŞMİ B., et al.

JIMD REPORTS, VOL 13 , cilt.13, ss.33-36, 2014 (SCI-Expanded, Scopus)

56. Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

Unal O., ÖZGEN MOCAN B., ORHAN D., TOKATLI A., Hismi B. O., DURSUN A., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.28, sa.11, ss.1509-1512, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

57. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

Unal O., ORHAN D., Ostergaard E., TOKATLI A., DURSUN A., ÖZTÜRK HİŞMİ B., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.28, sa.11, ss.1505-1508, 2013 (SCI-Expanded, Scopus)

58. **Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation**

KILIÇ M., ÖZGÜL R. K., DURSUN A., TOKATLI A., Kalkanoglu-Sivri H. S., Anlar B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.55, sa.6, ss.633-636, 2013 (SCI-Expanded, Scopus)

59. Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Oezgul R. K., Guezel-Ozantuerk A., Duendar H., Yuecel-Yilmaz D., COŞKUN T., Sivri S., et al.

JOURNAL OF HUMAN GENETICS , cilt.58, sa.10, ss.675-678, 2013 (SCI-Expanded, Scopus)

60. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance

Guzel-Ozanturk A., ÖZGÜL R. K., Unal O., Hismi B., Aydin H. I., Sivri S., et al.

GENE , cilt.521, sa.2, ss.293-295, 2013 (SCI-Expanded, Scopus)

61. Genetic basis of hyperlysinemia

Houten S. M., te Brinke H., Denis S., Ruiter J. P. N., Knegt A. C., de Klerk J. B. C., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.8, 2013 (SCI-Expanded, Scopus)

62. Serum alpha-fetoprotein levels in neonatal cholestasis

DEMİR H., Hizal G., USLU KIZILKAN N., Gurakan F., TALİM B., COŞKUN T., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.55, sa.2, ss.152-157, 2013 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

63. PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES

Hismi B., TEKŞAM Ö., Unal O., Takci S., Ertugrul İ., SİVRİ H. S., et al.

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

64. MOLECULAR CHARACTERISATION OF BIOTINIDASE GENE MUTATIONS IN TURKISH PATIENTS; AN UPDATE OF THE RESULTS

Karaca M., Yucel D., Unal O., Guzel A., TOKATLI A., COŞKUN T., et al.

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

65. Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

Unal O., ÖZTÜRK HİŞMİ B., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.4, ss.409-412, 2012 (SCI-Expanded, Scopus)

66. Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency

KILIÇ M., ÖZGÜL R. K., COŞKUN T., Yucel D., KARACA M. A., SİVRİ H. S., et al.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/3 , cilt.3, ss.17-23, 2012 (SCI-Expanded, Scopus)

67. A Rare Galactosemia Complication: Vitreous Hemorrhage

Takci S., KADAYIFÇILAR S., COŞKUN T., YİĞİT Ş., ÖZTÜRK HİŞMİ B.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2 , cilt.5, ss.89-93, 2012 (SCI-Expanded, Scopus)

68. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

Haliloglu G., Vezir E., Baydar L., Onol S., Sivri S., COŞKUN T., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.54, sa.1, ss.52-58, 2012 (SCI-Expanded, Scopus)

69. Genetic basis of cystinosis in Turkish patients: a single-center experience

TOPALOĞLU R., Vilboux T., COŞKUN T., ÖZALTIN F., Tinloy B., Gunay-Aygun M., et al.

PEDIATRIC NEPHROLOGY , cilt.27, sa.1, ss.115-121, 2012 (SCI-Expanded, Scopus)

70. Effects of probiotic (Primalac 454) on nonalcoholic fatty liver disease in broilers

YALÇIN S. S., Gucer S., Yalcin S., ONBAŞILAR İ., Kale G., COŞKUN T.

REVUE DE MEDECINE VETERINAIRE , cilt.162, sa.7, ss.371-376, 2011 (SCI-Expanded, Scopus)

71. Annual symposium of the SSIEM 2010

Coskun T.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, sa.3, ss.561-562, 2011 (SCI-Expanded, Scopus)

72. Home visits in phenylketonuria: a 12-month longitudinal study

GOKMEN-OZEL H., Buyuktuncer Z., Koksal G., KALKANOGLU-SIVRI H. S., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.2, ss.149-153, 2011 (SCI-Expanded, Scopus)

73. Gyrate atrophy of the choroid and retina: a case report

Buyuktortop N., Alp M. N., Sivri S., COŞKUN T., Kural G.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.1, ss.94-96, 2011 (SCI-Expanded, Scopus)

74. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome

KILIÇ M., SİVRİ H. S., DURSUN A., TOKATLI A., De Meirleir L., Seneca S., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.1, ss.79-82, 2011 (SCI-Expanded, Scopus)

75. MUTATION ANALYSIS IN ARSB GENE IN TURKISH PATIENTS WITH MPS TYPE VI: HIGH PREVALENCE OF L321P MUTATION

ÖZGÜL R. K., Karaca M., SİVRİ H. S., TOKATLI A., COŞKUN T., DURSUN A.

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

76. IDENTIFICATION OF NOVEL MUTATIONS IN PROMOTER AND CODING REGIONS IN ALDOB GENE CAUSING HEREDITARY FRUCTOSE INTOLERANCE

Yucel D., ÖZGÜL R. K., COŞKUN T., SİVRİ H. S., TOKATLI A., DURSUN A.

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

77. Zinc supplementation and TNF-alpha levels in vaccinated cardiac patients

YALÇIN Ş., Engur-Karasimav D., ALEHAN D., YURDAKÖK K., Ozkutlu S., COŞKUN T.

JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY , cilt.25, sa.2, ss.85-90, 2011 (SCI-Expanded, Scopus)

78. Glycogen storage disease and hemophagocytosis: A case report Glikojen depo hastaliǧi ve hemofagositik lenfohistiyositoz birlikteliǧi: Bir vaka takdimi

Çaǧdaš D. N., YURDAKÖK M., COŞKUN T., DEMİR H.

Cocuk Sagligi ve Hastaliklari Dergisi , cilt.53, sa.3, ss.216-219, 2010 (Scopus)

79. GROWTH AND PROTEIN INTAKE IN PHENYLKETONURIA: RESULTS OF 398 TURKISH CHILDREN

GOKMEN-OZEL H., Buyuktuncer Z., KOKSAL G., KILIÇ M., DURSUN A., KALKANOGLU-SIVRI S., et al.

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

80. VITAMIN B6 AND B12 STATUS IN TURKISH CHILDREN WITH PHENYLKETONURIA

Buyuktuncer Z., GOKMEN-OZEL H., KUCUKKASAP T., KOKSAL G., KILIÇ M., DURSUN A., et al.

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

81. L-2-Hydroxyglutaric Aciduria and Brain Tumors

Coskun T.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , cilt.32, sa.4, ss.339-340, 2010 (SCI-Expanded, Scopus)

82. The Relationship between Vitamin D Receptor Gene Polymorphisms and Bone Density, Osteocalcin Level and Growth in Adolescents

Ozaydin E., Dayangac-Erden D., Erdem-Yurter H., DERMAN O., COŞKUN T.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.23, sa.5, ss.491-496, 2010 (SCI-Expanded, Scopus)

83. The urinary cotinine levels of infants and the determinants

Yilmaz G., Karacan C., BESLER H. T., YURDAKÖK K., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.52, sa.3, ss.294-300, 2010 (SCI-Expanded, Scopus)

84. Maternal and environmental determinants of breast-milk mercury concentrations

YALÇIN Ş., YURDAKÖK K., Yalcin S. S., Engur-Karasimav D., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.52, sa.1, ss.1-9, 2010 (SCI-Expanded, Scopus)

85. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures

COŞKUN T., Aydin H. I., KILIÇ M., DURSUN A., Haliloglu G., Topaloglu H., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.6, ss.587-592, 2009 (SCI-Expanded, Scopus)

86. The effect of passive smoking and breast feeding on serum antioxidant vitamin (A, C, E) levels in infants

Yilmaz G., Agras P. I., Hizli S., Karacan C., BESLER H. T., YURDAKÖK K., et al.

ACTA PAEDIATRICA , cilt.98, sa.3, ss.531-536, 2009 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

87. Molecular genetics of maple syrup urine disease in the Turkish population

Gorzelany K., DURSUN A., COŞKUN T., Kalkanoglu-Sivri S. H., GÖKÇAY G. F., Demirkol M., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.51, sa.2, ss.97-102, 2009 (SCI-Expanded, Scopus)

88. Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey

Aydogdu S. D., Kirel B., COŞKUN T., Kose S.

SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY , cilt.43, sa.2, ss.138-141, 2009 (SCI-Expanded, Scopus)

89. Two new cases with Pearson syndrome and review of Hacettepe experience

TOPALOĞLU R., Lebre A. S., Demirkaya E., Kuskonmaz B. B., COŞKUN T., ORHAN D., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.6, ss.572-576, 2008 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

90. Pearson syndrome associated with hemophagocytic syndrome in a child

GÜMRÜK F., KUŞKONMAZ B. B., COŞKUN T.

Turkish Journal of Hematology , cilt.25, sa.1, ss.54-55, 2008 (SCI-Expanded, Scopus, TRDizin)

91. The effect of passive smoking on serum antioxidant vitamin (A, E, C) levels of breastfed and non-breastfed infants

Hizli S., Yilmaz G., Karacan C., YURDAKÖK K., COŞKUN T.

ACTA PAEDIATRICA , cilt.97, ss.43, 2008 (SCI-Expanded, Scopus)

92. Neonatal non-ketotic hyperglycinemia: Report of five cases

Demirel N., BAŞ A. Y., Zenciroglu A., Aydemir C., Kalkanoglu S., COŞKUN T.

PEDIATRICS INTERNATIONAL , cilt.50, sa.1, ss.121-123, 2008 (SCI-Expanded, Scopus)

93. Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets

BORA G., Oezkan B., Dayangac-Erden D., Erdem-Yurter H., COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.1, ss.30-33, 2008 (SCI-Expanded, Scopus)

94. Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents

YETGİN S., Aytac Ş. S., Kalkanoglu S., COŞKUN T., Ortmann C., Kratz C., et al.

Pediatric Hematology and Oncology , cilt.24, sa.6, ss.453-455, 2007 (SCI-Expanded, Scopus)

95. Assessment of tetrahydrobiopterin-responsiveness in Turkish hyperphenylalaninemic patients

Yildirim S., Tokatli A., Yilmaz E., Coskun T.

TURKISH JOURNAL OF PEDIATRICS , cilt.49, sa.1, ss.1-6, 2007 (SCI-Expanded, Scopus)

96. Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient

Tokatli A., Kalkanoglu-Sivri H. S., Yuce A., Coskun T.

TURKISH JOURNAL OF PEDIATRICS , cilt.49, sa.1, ss.75-76, 2007 (SCI-Expanded, Scopus)

97. Haematological findings in children with inborn errors of metabolism

Tavil B., Sivri H. S. K., Coskun T., Gurgey A., Ozyurek E., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, sa.5, ss.607-611, 2006 (SCI-Expanded, Scopus)

98. Plasma free carnitine levels in 0-12-month-old infants in relation to feeding styles

Hizel S., Kilic F. K., Sanli C., Coskun T., Onal S.

INTERNATIONAL JOURNAL FOR VITAMIN AND NUTRITION RESEARCH , cilt.76, sa.3, ss.117-123, 2006 (SCI-Expanded, Scopus)

99. Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion

Unal S., Kalkanoglu H., Kocaefe C., Gueer S., Ozen S., TURANLI G., et al.

JOURNAL OF CHILD NEUROLOGY , cilt.20, sa.1, ss.83-84, 2005 (SCI-Expanded, Scopus)

100. Molecular Analysis of Turkish Mucopolysaccharidosis IVA (Morquio A) Patients: Identification of Novel Mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene

Terzioglu M., TOKATLI A., COŞKUN T., Emre S.

HUMAN MUTATION , cilt.20, sa.6, 2002 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 55

1. Listening Parents Caring A Child With Phenylketonuria

ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.

3rd International Developmental Pediatrics Association Congress, 9 - 12 Aralık 2019, (Özet Bildiri)

2. Fenilketonüri ile Yaşamak: Anne Ve Babaların Penceresinden

ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.

63. Türkiye Milli Pediatri Kongresi, Türkiye, 30 Ekim - 03 Kasım 2019, (Özet Bildiri)

3. Hyperphenylalaninemia due to novel JCDNA12 mutation

SİVRİ H. S., ÇIKI K., YÜCEL YILMAZ D., GÜRSES CİLA H. E., ÖZGÜL R. K., TOKATLI A., et al.

SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.324, (Özet Bildiri)

4. Oxysterol levelsas oxidative stress biomarkers in organic acidemia patients

Eraslan Y., Lay İ., Samadi A., Gürbüz B., DURSUN A., SİVRİ H. S., et al.

SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 04 Eylül 2018 - 07 Eylül 2017, cilt.41, ss.37-219, (Özet Bildiri)

5. Biotin May Lead To High Free Thyroxine Levels in Some Immunoassay Methods

PORTAKAL AKÇİN O., GÖNÜL G., GÖNÇ E. N., SİVRİ H. S., ALİKAŞİFOĞLU A., YİĞİT Ş., et al.

69th AACC ANNUAL SCIENTIFIC MEETING, SAN DIEGO, Amerika Birleşik Devletleri, 30 Temmuz - 03 Ağustos 2017, cilt.63, (Özet Bildiri)

6. Mucopolysaccharidosis in a patyient with congenital glaucoma

DURSUN A., gurbuz b. b., TATAR O., SİVRİ H. S., COŞKUN T.

13. International Congress of İnborn Errors of metabolism, 5 - 08 Eylül 2017, (Özet Bildiri)

7. Three-year experience of pediatric physicians with adult inpatient consultations

YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.

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

8. Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and Outcomes

SİVRİ H. S., YILDIZ Y., AKCAN L., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.

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

9. Hyperphenylalaninemia in Argininosuccinic Aciduria: A case report.

LAY İ., GÖKSOY E., SİVRİ H. S., COŞKUN T.

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

10. Oxysterol levels in Organic Acidemia patients: Preliminary results.

ERASLAN Y., LAY İ., SAMADİ A., DURSUN A., SİVRİ H. S., COŞKUN T.

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

11. The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients

BİLGİNER GÜRBÜZ B., YILDIZ Y., GOKSOY E., YÜCEL YILMAZ D., DURSUN A., TOKATLI A., et al.

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

12. Etilmelonik ensefalopati: vaka sunumu

PEKTAŞ E., Yoldaş T. Ç., BİLGİNER GÜRBÜZ B., YILDIZ Y., DURSUN A., SİVRİ H. S., et al.

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

13. Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyim

YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.

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

14. Glutarik asiduri tip 1’li hastalarda oral motor ve yutma fonksiyon değerlendirmesi: Vaka serisi

SEREL ARSLAN S., ILGAZ F., DEMİR N., GÖKMEN ÖZEL H., KARADUMAN A. A., COŞKUN T.

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

15. Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk Sonuçlar

PEKTAŞ E., Evinc G., FOTO ÖZDEMİR D., Karaboncuk Y., BİLGİNER GÜRBÜZ B., YILDIZ Y., et al.

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

16. Fenilketonürili bireylerde diyet enerji ve protein alımlarının antropometrik ölçümlere etkisi var mıdır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.149, (Özet Bildiri)

17. Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesi

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.151, (Özet Bildiri)

18. Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.150, (Özet Bildiri)

19. Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi

GÖKMEN ÖZEL H., YILMAZ Ö., YILDIZ Y., GÖKSOY E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.148, (Özet Bildiri)

20. Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?

YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.152, (Özet Bildiri)

21. a rare form of mucopolysaccoridosis

BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., COŞKUN T., TOKATLI A.

MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)

22. presentation of classical galaktosemia with positive neborn screening

DURSUN A., bozat a., BİLGİNER GÜRBÜZ B., PEKTAŞ E., SİVRİ H. S., TOKATLI A., et al.

MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)

23. adult form metachormatic leuucodistrohy caused by a novel mutation

BİLGİNER GÜRBÜZ B., khasiyer f., KARLI OĞUZ H. K., karabudak r., DURSUN A., TOKATLI A., et al.

MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)

24. a rare lysosomal storage disease

COŞKUN T., canoruç d., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., et al.

MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)

25. Presentation of classic galactosemia with positive newborn screening for hyperphenylalaninemia

DURSUN A., YILDIZ Y., akın s., bozat a., YİĞİT Ş., BİLGİNER GÜRBÜZ B., et al.

13th Middle East Metabolic Group Meeting, 28 - 30 Ekim 2016, (Özet Bildiri)

26. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia

Evinç G., FOTO ÖZDEMİR D., ÖKTEM F., PEKTAŞ E., COŞKUN T., TOKATLI A., et al.

2016 annual multidisciplinary European Phenylketanuria Symposium, 7 - 08 Ekim 2016, (Özet Bildiri)

27. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia Rome Italy September 2016 2016 39 Suppl 1 S1 S34 P 164 DOI 10 1007 s10545 016 9970 9

Evinç G., FOTO ÖZDEMİR D., PEKTAŞ E., ÖKTEM F., SİVRİ H. S., COŞKUN T., et al.

SSIEM 2016 Annual Symposium, Roma, 4 - 10 Eylül 2016, (Özet Bildiri)