Yayınlar & Eserler

Yayın Ağı
Makaleler 139
Tümü (139)
SCI-E, SSCI, AHCI (131)
SCI-E, SSCI, AHCI, ESCI (137)
ESCI (6)
Scopus (135)
TRDizin (12)
Diğer Yayınlar (1)

1. Endoplasmic reticulum stress pathways and cellular death mechanisms in patients with phenylketonuria

Gurses Cila H. E., DURSUN A., Vardar Acar N., Gecici N. N., AYHAN S., OSKAY HALAÇLI S., et al.
MOLECULAR BIOLOGY REPORTS , cilt.52, sa.1, 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier

2. 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) identifier identifier identifier

3. 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) identifier identifier

4. Impact of the COVID-19 Era on Phenylalanine Levels and Classical Phenylketonuria Patients Follow-Up: A Retrospective Analysis

KAHRAMAN A. B., YILDIZ Y., GEÇİCİ N. N., ÇIKI K., ERDAL İ., AKAR H. T., et al.
Türkiye Çocuk Hastalıkları Dergisi , cilt.19, sa.2, ss.59-63, 2025 (TRDizin) identifier

5. 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) identifier identifier identifier

6. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded, Scopus) identifier

7. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , ss.1484-1485, 2024 (SCI-Expanded, Scopus) identifier

8. 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) identifier identifier identifier

9. Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Gurbuz B. B., GÜLBAKAN B., ÖZGÜL R. K., YALNIZOĞLU D., Yilmaz D. Y., GÖÇMEN R., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.194, sa.9, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

10. 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) Creative Commons License identifier identifier identifier

11. From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood

Ozbek E. D., Nezerli J., AKAR H. T., Yilmaz D. Y., DURSUN A., GÖÇMEN R., et al.
ARCHIVES OF EPILEPSY , cilt.30, sa.2, ss.53-55, 2024 (ESCI, Scopus, TRDizin) Creative Commons License Sürdürülebilir Kalkınma identifier identifier

12. 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, Scopus) identifier identifier identifier

13. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.
Brain : a journal of neurology , cilt.147, sa.1, ss.311-324, 2024 (SCI-Expanded, Scopus) identifier identifier identifier

14. 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) identifier identifier identifier

15. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

KAHRAMAN A. B., YILDIZ Y., ÇIKI K., Erdal I., AKAR H. T., DURSUN A., et al.
Molecular Genetics and Metabolism , cilt.139, sa.2, 2023 (SCI-Expanded, Scopus) identifier identifier identifier

16. 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) identifier identifier identifier

17. An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy

Vardar Acar N., DURSUN A., Aygün D., Gürses Cila H. E., LAY İ., GÜLBAKAN B., et al.
Free Radical Biology and Medicine , cilt.179, ss.190-199, 2022 (SCI-Expanded, Scopus) identifier identifier identifier

18. Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

19. 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) Creative Commons License identifier identifier identifier identifier

20. 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) Creative Commons License identifier identifier

21. 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) Creative Commons License identifier identifier

22. 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) identifier identifier identifier

23. 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 identifier identifier identifier

24. 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) identifier identifier identifier

25. 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) identifier identifier identifier

26. Presentation of 14 alkaptonuria patients from Turkey

AKBABA A. İ., ÖZGÜL R. K., DURSUN A.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.2, ss.289-294, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

27. 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) identifier identifier identifier

28. 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) identifier identifier identifier

29. Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

DURSUN A., YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Yucel-Yilmaz D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS , 2019 (SCI-Expanded, Scopus) identifier identifier identifier

30. 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) identifier identifier identifier

31. Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Ozer B., Yucel-Yilmaz D., Gurbuz B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded, Scopus) identifier identifier identifier

32. The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne J. J., Tarailo-Graovac M., Ghani A., Champion M., Deshpande C., DURSUN A., et al.
MOLECULAR GENETICS AND METABOLISM , cilt.123, sa.1, ss.28-42, 2018 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

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) identifier identifier identifier

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 identifier identifier identifier

35. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency

KANDEMİR N., Yilmaz D. Y., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., DURSUN A., et al.
JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY , cilt.165, ss.57-63, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

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 identifier identifier identifier

37. A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

DURSUN A., YALNIZOĞLU D., Gerdan O. F., Yucel-Yilmaz D., Sagiroglu M. S., YUKSEL B., et al.
CLINICAL DYSMORPHOLOGY , cilt.26, sa.1, ss.1-12, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

38. HOMOZYGOUS GNAL MUTATION ASSOCIATED WITH FAMILIAL CHILDHOOD-ONSET GENERALIZED DYSTONIA

MASUHO I., FANG M., GENG C., ZHANG J., JİANG H., ÖZGÜL R. K., et al.
NEUROLOGY-GENETICS , cilt.2, sa.3, 2016 (ESCI, Scopus) Creative Commons License identifier identifier

39. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

OZANTÜRK A., Davis E. E., Sabo A., Weiss M. M., Muzny D., Dugan-Perez S., et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES , cilt.2, sa.2, 2016 (ESCI, Scopus) Creative Commons License identifier

40. 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) Creative Commons License identifier identifier identifier

41. veziküler trafik bozuklukları

DURSUN A.
türikye klinikleri , 2016 (Hakemli Dergi)

42. 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) identifier

43. 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) Creative Commons License identifier identifier

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) identifier identifier identifier

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) identifier identifier identifier

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. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

AKIZU N., CANTAGREL V., ZAKI M. S., Al-Gazali L., WANG X., ROSTI R. O., et al.
NATURE GENETICS , cilt.47, sa.5, ss.528-536, 2015 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

48. 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)

49. 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) identifier identifier identifier

50. Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

ÖZGÜL R. K., YUCEL-YILMAZ D., DURSUN A.
JOURNAL OF CLINICAL IMMUNOLOGY , cilt.34, sa.3, ss.265-266, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

51. 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) identifier identifier identifier

52. 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) Creative Commons License identifier

53. 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) identifier identifier identifier

54. 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 identifier identifier

55. 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) identifier identifier

56. 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) Creative Commons License identifier identifier identifier

57. 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) identifier identifier identifier

58. Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

Ostergaard E., Duno M., Moller L. B., Kalkanoglu-Sivri H. S., DURSUN A., ALİEFENDİOĞLU D., et al.
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/6 , cilt.9, ss.1-5, 2013 (SCI-Expanded, Scopus) Creative Commons License identifier

59. SEVERE AZOTEMIA AND HYPERNATREMIC DEHYDRATION IN AN INFANT WITH PHENYLKETONURIA

Unal O., DÜZOVA A., ÖZTÜRK HİŞMİ B., DURSUN A., Tokatli A., Coskun T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

60. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

Guven A., Cebeci N., DURSUN A., Aktekin E. H., Baumgartner M. R., Fowler B.
PEDIATRIC DIABETES , cilt.13, sa.6, 2012 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma identifier identifier identifier

61. FEVER OF UNKNOWN ORIGIN IN A YOUNG ADULT WITH END-STAGE RENAL DISEASE, PREMATURE CORONARY ARTERY DISEASE AND POLYNEUROPATHY

ÖZTÜRK HİŞMİ B., Yasar Y., Unal O., Kilic L., Turkmen E., Erdem Y., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

62. 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) identifier

63. OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Yucel-Yilmaz D., Ersoy M., Candan S., Balci M., KILIÇ M., Gokcay G., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

64. ACUTE INTERMITTENT PORPHYRIA: STILL UNCALLED BY PHYSICIANS

ÖZTÜRK HİŞMİ B., Tanriover M. D., Unal O., Sener E., TEMUÇİN Ç. M., Sivri H. S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

65. ENZYME REPLACEMENT THERAPY (ERT)RESULTS OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)

Unal O., Dogru-Ersoz D., Alehan D., Saglam M., Hismi B., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

66. DIETARY MANAGEMENT AND GROWTH OF TETRAHYDROBIOPTERIN RESPONSIVE TURKISH PKU PATIENTS

Gokmen-Ozel H., Unal O., Kalkanoglu-Sivri H. S., Koksal G., DURSUN A., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

67. 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) identifier

68. A PATIENT WITH PYRUVATE CARBOXYLASE DEFICIENCY AND NEMALINE RODS ON MUSCLE BIOPSY

Unal O., ÖZTÜRK HİŞMİ B., DURSUN A., Tokatli A., Coskun T., Wibrand F., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

69. MOLYBDENUM COFACTOR (MOCO) DEFICIENCY TYPE B; CLINICAL, BIOCHEMICAL AND NEUROIMAGING FEATURES OF FIVE PATIENTS WTH TWO NOVEL MUTATIONS

ÖZTÜRK HİŞMİ B., Unal O., Sass J. O., Beermann F., Ichida K., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded, Scopus) identifier

70. 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) identifier identifier identifier

71. Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

DUNDAR H., ÖZGÜL R. K., YALNIZOĞLU D., Erdem S., Oguz K. K., Tuncel D., et al.
PEDIATRIC NEUROLOGY , cilt.46, sa.3, ss.172-177, 2012 (SCI-Expanded, Scopus) identifier identifier identifier

72. A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene

Kilic M., Taskesen M., Coskun T., Gurakan F., Tokatli A., Sivri H. S., et al.
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/2 , cilt.2, ss.25-28, 2012 (SCI-Expanded, Scopus) Creative Commons License Sürdürülebilir Kalkınma identifier identifier

73. 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) Creative Commons License identifier identifier

74. THE CARDIAC MANIFESTATION AND RESPONSE TO L-CARNITINE TREATMENT IN 14 CASES WITH PRIMARY SYSTEMIC CARNITINE DEFICIENCY: CORRELATION WITH GENOTYPE

Balci M. C., Yucel D., Ergul Y., ÖZGÜL R. K., Baykal T., Aktuglu-Zeybek C., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

75. 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) identifier identifier identifier

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) identifier

77. HEMOPHAGOCYTOSIS IN THREE PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM

Gokce M., Unal O., ÖZTÜRK HİŞMİ B., Gumruk F., Coskun T., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

78. THE PRESENCE OF NEGATIVE CORRELATION BETWEEN BLOOD HEMOGLOBIN AND PROPIONYLCARNITINE LEVELS IN METHYLMALONIC AND PROPIONIC ACIDEMIAS

Aydin H., Sivri S., DURSUN A., Tokatli A., Kutuk G., Onol S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

79. CHALLENGES IN THE TREATMENT OF A PATIENT AFFECTED BY BOTH ARGININOSUCCINIC ACIDURIA AND METHYLMALONIC ACIDURIA

Unal O., ÖZTÜRK HİŞMİ B., Coskun T., Tokatli A., DURSUN A., Sivri K. H. S.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

80. Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

DURSUN A., ÖZGÜL R. K., Sivri S., TOKATLI A., Guzel A., Mesci L., et al.
JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1 , cilt.1, ss.17-21, 2011 (SCI-Expanded, Scopus) Creative Commons License identifier identifier identifier

81. OUTCOME OF ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI

Kilic M., Kalkanoglu-Sivri H. S., DURSUN A., Tokatli A., Coskun T.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

82. PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES

Kilic M., Tokatli A., ALANAY Y., Kilic E., Kalkanoglu-Sivri H. S., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

83. 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) identifier

84. A ZINC SULPHATE-RESISTANT ACRODERMATITIS ENTEROPATHICA PATIENT WITH A NOVEL MUTATION IN SLC39A4 GENE

Kilic M., Taskesen M., Coskun T., Gurakan F., Tokatli A., Kalkanoglu-Sivri H. S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded, Scopus) identifier

85. Mutations in the G6PC3 Gene Cause Dursun Syndrome

Banka S., Newman W. G., ÖZGÜL R. K., DURSUN A.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.10, ss.2609-2611, 2010 (SCI-Expanded, Scopus) identifier identifier identifier

86. A NOVEL MUTATION IN BETA KETOTHIOLASE DEFICIENCY

Unal O., ÖZTÜRK HİŞMİ B., Kilic M., DURSUN A., Kalkanoglu-Sivri H. S., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

87. MUTATION PROFILE OF BCKDHA, BCKDHB AND DBT GENES FOR MAPLE SYRUP URINE DISEASE IN TURKEY

Ozgul R. K., Guzel A., Dundar H., Yucel D., Yilmaz A., Unal O., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

88. A TURKISH PATIENT WITH LATE ONSET cbIC DEFECT CAUSED BY c.394C > T MUTATION

Kilic M., DURSUN A., Tokatli A., Sivri H. S., Anlar B., Fowler B., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

89. SCREENING OF ATP7B GENE MUTATIONS IN TURKISH PATIENTS WITH WILSON DISEASE BY CUSTOM DESIGNED RESEQUENCING MICROARRAYS

Yilmaz A., Guzel A., Dundar H., DURSUN A., Uslu N., Yuce A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

90. NOVEL HOMOGENTISATE DIOXIGENASE (HGD) GENE MUTATIONS IN ALKAPTONURIA PATIENTS

Hatipoglu E., Ozgul R. K., Sivri H. S., Coskun T., Tokatli A., Karaca S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

91. SIX NOVEL MUTATIONS IN TURKISH PATIENTS WITH ISOVALERIC ACIDEMIA

Kucuk O., Ozgul R. K., Karaca M., Sivri H. S., Coskun T., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

92. HACETTEPE EXPERIENCE WITH PEROXISOMAL DISORDERS UNDER FOUR YEARS OF AGE

Kilic M., Tokatli A., Sivri H. S., DURSUN A., Topaloglu H., Wanders R. J. A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

93. MUTATIONS IN FUMARYLACETOACETATE HYDROLASE GENE AND GENOTYPE-PHENOTYPE RELATION

Ozgul R. K., Guzel A., Mesci L., Sivri H. S., Kilic M., Ozcay F., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

94. EVALUTION OF 42 PATIENTS WITH HYPERPHENYLALANINEMIA CAUSED BY A DEFECT IN TETRAHYDROBIOPTERIN METABOLISM

Kizilelma A., Tokatli A., Kalkanoglu-Sivri H. S., DURSUN A., Aydin H., Blau N., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

95. NOVEL MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Kilic M., Ozgul R. K., Yucel D., Karaca M., DURSUN A., Sivri H. S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

96. THE SPECTRUM AND FREQUENCY OF ALDOLASE B GENE MUTATIONS IN TURKISH PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCE

Yucel D., Ozgul R. K., Yilmaz A., Sivri H. S., Coskun T., Unal O., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

97. INFANTILE REFSUM DISEASE IN A TURKISH PATIENT: CASE REPORT

Kilic M., Karli O. K., Coskun T., Haliloglu G., Wanders R. J. A., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

98. GALACTOSEMIA IN A TURKISH POPULATION WITH A HIGH PREVALENCE OF Q188R MUTATION

Guzel A., Ozgul R. K., Dundar H., Coskun T., Sivri H. S., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

99. 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) identifier

100. TRANSCOBALAMIN II DEFICIENCY IN TWO CASES WITH A NOVEL MUTATION

ÜNAL S., Ozgul R. K., DURSUN A., Yetgin S., Coskun T., Rupar T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

101. CIRRHOSIS ASSOCIATED WITH PROPIONATE METABOLISM

DURSUN A., Dundar H., Ozgul R. K., Talim B., Kale G., Demir H., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

102. MOLECULAR AND STRUCTURAL ANALYSIS OF SIX NONSENSE MUTATIONS IN MUT METHYLMALONIC ACIDEMIA PATIENTS INCLUDING TWO NOVEL NONSENSE MUTATIONS

Dundar H., Ozgul R. K., Unal O., Karaca M., Aydin H., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

103. THREE CASES WITH FRUCTOSE 1,6-BISPHOSPHATASE DEFICIENCY: TWO NOVEL MUTATIONS

Yucel D., Ozgul R. K., Tokatli A., Sivri H. S., Guzel A., Coskun T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

104. POLYNEUROPATHY AS THE MAIN PRESENTING SYMPTOM IN PDH DEFICIENCY

Unal O., ÖZTÜRK HİŞMİ B., Kilie M., DURSUN A., Kalkanoglu-Sivri H. S., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

105. A NOVEL MUTATION IN DGUOK GENE IN A TURKISH NEWBORN

Kilic M., DURSUN A., Sivri H. S., Tokatli A., Akcoren Z., Yigit S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

106. MUTATIONS IN UBIQUITOUSLY EXPRESSED GLUCOSE-6-PHOSPHATASE CATALYTIC SUBUNIT (G6PC3) CAUSE DURSUN SYNDROME

Banka S., Newman W. G., Donnai D., Crow Y. J., Chervinsky E., Shalev S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

107. ASSOCIATION OF POLYNEUROPATHY, MENTAL RETARDATION, SENSORINEURAL HEARING LOSS, 6th NERVE PALSY, CONVULSIONS, AND ORAL DYSKINESIA; A PROPABLE NEW NEUROMETABOLIC DISORDER

DURSUN A., YALNIZOĞLU D., DÜNDAR H., ERDEM S., AKARSU A. N., ÖZGÜL R. K.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

108. IDENTIFICATION OF MUTATIONS IN THE PCCA AND PCCB GENES CAUSING PROPIONIC ACIDEMIA IN TURKISH PATIENTS

Ozgul R. K., Yucel D., ÖZTÜRK HİŞMİ B., Karaca M., Sivri H. S., Coskun T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

109. RENAL AGENESIS IN ASSOCIATION WITH MATERNAL PKU SYNDROME

Kilic M., Sivri H. S., Tokatli A., DURSUN A., Coskun T.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

110. MUTATION DETECTION IN TURKISH PATIENTS WITH GLUTARIC ACIDURIA TYPE I

Guzel A., Ozgul R. K., Yucel D., Karaca M., Kilic M., Coskun T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

111. GENOME-WIDE GENOTYPING FOR THE CHARACTERIZATION OF DISEASE LOCUS IN A FAMILY WITH AN UNCHARACTERIZED NEUROMETABOLIC DISEASE

Dundar H., Yucel D., DURSUN A., Ozgul R. K.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.33, 2010 (SCI-Expanded, Scopus) identifier

112. 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) identifier

113. Von Willebrand disease associated with heterozygous factor V G1691A mutation and thrombosis in a patient with mut(0) methylmalonic acidemia: a paradoxical phenomenon

Aytac S., ÜNAL S., Coskun T., Tokatli A., Sivri S., DURSUN A., et al.
HAEMOPHILIA , cilt.16, sa.2, ss.408, 2010 (SCI-Expanded, Scopus) identifier

114. Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Ostergaard E., Moller L. B., Kalkanoglu-Sivri H. S., DURSUN A., Kibaek M., Thelle T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.32, sa.1, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

115. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

DURSUN A., Gucer S., Ebberink M. S., YİĞİT Ş., Wanders R. J. A., Waterham H. R.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.32, sa.1, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

116. 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) identifier identifier identifier

117. Increased Frequency of Extremely Skewed X Chromosome Inactivation in Juvenile Idiopathic Arthritis

Uz E., Mustafa C., TOPALOĞLU R., BİLGİNER Y., DURSUN A., KASAPÇOPUR Ö., et al.
ARTHRITIS AND RHEUMATISM , cilt.60, sa.11, ss.3410-3412, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

118. 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) identifier identifier identifier

119. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

DURSUN A., ÖZGÜL R. K., SOYDAŞ A., Tugrul T., GÜRGEY A., ÇELİKER A., et al.
CLINICAL DYSMORPHOLOGY , cilt.18, sa.1, ss.19-23, 2009 (SCI-Expanded, Scopus) identifier identifier identifier

120. Renal functions of twenty seven children with methylmalonic Acidemia (MMA): Is there a good marker?

Aydin H. I., Duzova A., DURSUN A., Sivri S., Aksoy T., Kiratli P., et al.
PEDIATRIC NEPHROLOGY , cilt.23, sa.9, ss.1587, 2008 (SCI-Expanded, Scopus) identifier

121. A Zellweger syndrome associated with non-immune hydrops fetalis, lung hypoplasia and dermal erythropoiesis

DURSUN A., Doertttepe Y., Gueer S., Yigit S., Wanders R. J. A.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.68, 2008 (SCI-Expanded, Scopus) identifier

122. Favourable outcome with oral creatine supplementation: Clinical and laboratory findings in five patients with GAMT deficiency

Haliloglu G., Karli O. K., DURSUN A., Tokatli A., Bodamer O., Coskun T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.69, 2008 (SCI-Expanded, Scopus) identifier

123. Pancreatic beta cell reserve and insulin sensitivity in maple syrup urine disease

DURSUN A., Sarikabadayi Y. U., Ozon Z. A.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.7, 2008 (SCI-Expanded, Scopus) identifier

124. Argininosuccinic aciduria associated with pancreatitis

DURSUN A., Sivri H. S., Oezon A., Akcaoeren Z., Tokatly A., Koch H. G., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.90, 2008 (SCI-Expanded, Scopus) identifier

125. Renal function in twenty seven children with methylmalonic acidemia (MMA): Is there a good marker?

Aydin H., DÜZOVA A., Kalkanoglu S. H. S., DURSUN A., Aksoy T., Kiratli P., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.25, 2008 (SCI-Expanded, Scopus) identifier

126. Severe axonal polyneuropathy due to dichloroacetate in a patient with pyruvate dehydrogenase deficiency

DURSUN A., Tokatly A., Sivri H. S., Coskun T.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.31, ss.63, 2008 (SCI-Expanded, Scopus) identifier

127. Breast Massage and Mastitis in Early Infancy: Case Report

Alan S., Iskender D., Tezer H., Devrim I., DURSUN A., KARA A.
JOURNAL OF PEDIATRIC INFECTION , cilt.1, sa.3, ss.121-123, 2007 (ESCI, Scopus, TRDizin) Sürdürülebilir Kalkınma identifier

128. Molecular genetics of maple syrup urine disease (MSUD) in Turkish patients

Gorzelany K., DURSUN A., Coskun T., GÖKÇAY G. F., Demirkol M., Wendel U.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.30, ss.25, 2007 (SCI-Expanded, Scopus) identifier

129. Hearing loss in biotinidase deficiency: Genotype-phenotype correlation

Sivri H. S. K. L., Genc G. A., Tokatly A., DURSUN A., Copkun T., Aydyn H. Y., et al.
JOURNAL OF PEDIATRICS , cilt.150, sa.4, ss.439-442, 2007 (SCI-Expanded, Scopus) identifier identifier identifier

130. 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) identifier identifier identifier

131. Psychiatric symptoms of mothers of children with phenylketonuria

Dursun Soncag A., Sivri Kalkanoglu H. S., Cuhadaroglu F., DURSUN A., Aydin H., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, ss.97, 2006 (SCI-Expanded, Scopus) identifier

132. Basal ganglia involvement in childhood: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase (GAMT) deficiency

Haliloglu G., DURSUN A., Oguz K. K., Yalnyzoglu D., Aydin H. Y., Aysun S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, ss.145, 2006 (SCI-Expanded, Scopus) identifier

133. Hearing loss in biotinidase deficiency: Preliminary results indicate genotype-phenotype correlation

Sivri Kalkanoglu H. S., Genc G. A., Sennaroglu L., Aydin H., DURSUN A., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.29, ss.105, 2006 (SCI-Expanded, Scopus) identifier

134. CARNITINE TOXICITY IN A PATIENT WITH LCHAD DEFICIENCY

Kalkanoglu H. S., DURSUN A., Aydin H. I., Tokatli A., Spiekerkotter U., Wendel U., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.28, ss.104, 2005 (SCI-Expanded, Scopus) identifier

135. PYRUVATE DEHYDROGENASE DEFICIENCY DUE TO NOVEL AND KNOWN MUTATIONS IN THE E1 ALPHA SUBUNIT

Wibrand F., Kalkanoglu H. S., DURSUN A., Tokatli A., Coskun T., Lund A. M., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.28, ss.122, 2005 (SCI-Expanded, Scopus) identifier

136. A boy with spastic paraparesis and Dyspnea

Kalkanoglu H., DURSUN A., Tokatli A., Coskun T., Karasimav D., Topaloglu H.
JOURNAL OF CHILD NEUROLOGY , cilt.19, sa.5, ss.397-398, 2004 (SCI-Expanded, Scopus) identifier identifier identifier

137. Transient nonketotic hyperglycinemia: Two case reports and literature review

Aliefendioglu D., Aslan A., Coskun T., DURSUN A., Cakmak F., Kesimer M.
PEDIATRIC NEUROLOGY , cilt.28, sa.2, ss.151-155, 2003 (SCI-Expanded, Scopus) identifier identifier identifier

138. Maple syrup urine disease: Mutation analysis in Turkish patients

DURSUN A., Henneke M., Ozgul K., Gartner J., Coskun T., Tokatli A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE , cilt.25, sa.2, ss.89-97, 2002 (SCI-Expanded, Scopus) identifier identifier identifier

139. Mutation analysis in Turkish patients with hereditary fructose intolerance

DURSUN A., Kalkanoǧlu H., Coşkun T., TOKATLI A., Bittner R., KOÇAK N., et al.
Journal of Inherited Metabolic Disease , cilt.24, sa.5, ss.523-526, 2001 (SCI-Expanded, Scopus) identifier identifier
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 67

1. Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family

BİLGİNER GÜRBÜZ B., EROĞLU ERTUĞRUL N. G., KOŞUKCU C., YÜCEL YILMAZ D., ÖZGÜL R. K., YALNIZOĞLU D., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.1-479, (Tam Metin Bildiri) identifier identifier

2. 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)

3. 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)

4. 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)

5. 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)

6. 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)

7. 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)

8. 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)

9. 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)

10. 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)

11. 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)

12. 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)

13. 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)

14. 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)

15. 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)

16. 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)

17. a rare form of mucopolysaccoridosis

BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., COŞKUN T., TOKATLI A.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)

18. A27 Prenatal findings and autopsy examination in a newborn with multiple acyl CoA dehydrogenase deficiency Abstract Book A27 p 85

TOKATLI A., YILDIZ Y., DOKUZBOY SIRMA R., YİĞİT Ş., TALİM B., CEYLANER S., et al.
13th Middle East Metabolic Group Meeting, 6, Amman-Jordan, 28 - 30 Ekim 2016, ss.85, (Tam Metin Bildiri)

19. 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)

20. 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)

21. 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)

22. gnaL gene mutation and dystonia in two türkish siblings diagnosed by exom sequenicing

GÜNDÜZ M., ÜNAL Ö., ÖZGÜL R. K., DURSUN A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

23. Phenotypic variability and clinical biochemical histological andmolecular genetic characteristics of 17 patients with multipleacyl CoA dehydrogenase deficiency

TOKATLI A., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

24. Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiency

DOKUZBOY S., TALİM B., YİĞİT Ş., SİVRİ H. S., TOKATLI A., DURSUN A., et al.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

25. Short term outcome of surgical correction of genu valgum in fourpatients with mucopolysaccharidosis type IV

SİVRİ H. S., aksoy m., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., TOKATLI A., et al.
SSIEM RDMA, 6 Eylül - 09 Haziran 2016, (Özet Bildiri)

26. ethymelanonic encephaopathy without etilmelanoc acitüria

YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., SERDARDĞLu e., YALNIZOĞLU D., DURSUN A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

27. the fist case of phenylketonuria with tyrosinemai type III

COŞKUN T., BİLGİNER GÜRBÜZ B., DURSUN A., SİVRİ H. S., TOKATLI A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

28. A case with psychomotor regression and leukoencephalopathy due to RNASEH2B gene defect

ÖZGÜL R. K., YÜCEL YILMAZ D., SERDAROĞLU E., YALNIZOĞLU D., TOPÇU M., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

29. pontocerebellar hypoplasia type 6 a case with meonatal seizures hypotonia and microcephaly diagnosed by exome sequencing

DURSUN A., sedaroğlu e., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D.
SSIEM roma, 6 - 09 Eylül 2016, (Özet Bildiri)

30. Ethylmalonic encephalopathy without ethylmalonic aciduria

YÜCEL YILMAZ D., ÖZGÜL R. K., PEKTAŞ E., serdaroğlu e., YALNIZOĞLU D., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

31. argininosüccinic acidüria associated with pancreatitis

DURSUN A., SİVRİ H. S., AKÇÖREN Z., TOKATLI A., COŞKUN T.
SSIEM, 6 - 09 Eylül 2016, (Özet Bildiri)

32. Adult mucopolysaccharidosis type VI patient with severe cervicalcord compression at diagnosis

SİVRİ H. S., mocan ö., DURSUN A., TOKATLI A., COŞKUN T.
SSIEM roma, 6 - 09 Eylül 2016, (Özet Bildiri)

33. Pontocerebellar hypoplasia type 6 a case with neonatal seizures hypotonia and microcephaly diagnosed by exome sequencing

SERDAROĞLU E., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 6 - 09 Eylül 2016, (Özet Bildiri)

34. Optic neuropathy a rare late complication in methylmalonicacidemia

BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., TOKATLI A., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

35. Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficit

DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S., YILDIZ Y.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)

36. yeni metabolik hastalıkların tanımlanmasında genetik yaklaşım

DURSUN A.
V uluslararası katılımlı lizozomal hastalıklar kongresi, 14 - 17 Nisan 2016, (Tam Metin Bildiri)

37. Veziküler trafik bozuklukları

DURSUN A.
3. nörometabolik dismorfoloji sempozyumu, Türkiye, 10 - 13 Mart 2016, (Tam Metin Bildiri)

38. Ekzom Dizi Analizi ile ATP8A2 Aminofosfolipid Transporter Protein Geninde Saptanan Yeni Bir Splaysing Mutasyonu

YÜCEL YILMAZ D., DURSUN A., YALNIZOĞLU D., serdaroğlu e.
3. Nörometabolik Dismorfoloji Sempozyumu, Türkiye, 10 - 12 Mart 2016

39. Glutarik Asidemi Tip 2 Dismorfolojik İpuçları Veren Metabolik Bir Hastalık

AKGÜN DOĞAN Ö., ÜNSAL Y., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., DURSUN A., TALİM B., et al.
3. Nörometabolik Dismorfoloji Sempozyumu, Türkiye, 10 - 12 Mart 2016, (Tam Metin Bildiri)

40. Two cases with mucopolysaccharidosis type VII

Sivri S., Pektas E., YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T.
12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri) identifier

41. Türkiye de Genom Veri Bankasının Oluşturulması

DURSUN A.
7. DETAE günleri 2015, Türkiye, 11 - 12 Kasım 2015

42. Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduria

YÜCEL YILMAZ D., ÖZGÜL R. K., Özlem u., COŞKUN T., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015

43. Partial biotinidase deficiency with late onset severe cutaneous manifestations

SİVRİ H. S., yıldız Y., PEKTAŞ E., KK C., ALEHAN D., DURSUN A., et al.
SSIEM, 4 - 07 Eylül 2015

44. SNX14 Sorting Nexin 14 gene mutation causes a new syndromic form of cerebellar atrophy in a Turkish family

ÖZGÜL R. K., YÜCEL YILMAZ D., Ömer g., YALNIZOĞLU D., Mahmut s., DURSUN A.
SSIEM, 4 - 07 Eylül 2015

45. Coexistence of phenylketonuria and primary adrenal insufficiency

COŞKUN T., PEKTAŞ E., GG b., DURSUN A., SİVRİ H. S., TOKATLI A.
SSIEM, 4 - 07 Eylül 2015

46. Rhizomelic chondrodysplasia punctata type II a case diagnosed by whole exome sequencing

DURSUN A., PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K.
SSIEM, 4 - 07 Eylül 2015

47. Hyperlysinemia in a child and his mother

PEKTAŞ E., Burcu h., Özlem u., DURSUN A., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015

48. A rare metabolic disease succinic semialdehyde dehydrogenase deficiency

TOKATLI A., PEKTAŞ E., yıldız Y., Özlem u., DURSUN A., SİVRİ H. S., et al.
SSIEM, 4 - 07 Eylül 2015

49. Two Cases with Mucopolysaccharidosis Type VII Sly s Syndrome

SİVRİ H. S., PEKTAŞ E., DURSUN A., TOKATLI A., COŞKUN T.
SSIEM, 4 - 07 Eylül 2015

50. Splicing mutation in aminophospholipid transporter protein ATP8A2 in a Turkish family

DURSUN A., YALNIZOĞLU D., YÜCEL YILMAZ D., serdaroğlu E., Unal Ö., görmez Z., et al.
SSIEM, 4 - 06 Eylül 2015

51. A case of fucosidosis with a new mutation in FUCA1 gene

PEKTAŞ E., YÜCEL YILMAZ D., ÖZGÜL R. K., DURSUN A.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

52. Vacuolar storage material in a family with juvenile parkinsonism andmutations in FBXO7

ESRA S., ÖZGÜL R. K., YALNIZOĞLU D., MADEO M., MALANDRİNİ A., KLEE E., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), 1 - 04 Eylül 2015

53. Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti

ÖZGÜL R. K., YÜCEL YILMAZ D., SANİYE Ö., YALNIZOĞLU D., TURANLI G., ESRA S., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

54. Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisi

Kılıç M., ÖZGÜL R. K., KARACA M., Küçük Ö., YÜCEL YILMAZ D., ALİEFENDİOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

55. Lizozom Otofagozom Defekti Sonucu Serebellar Atrofiye Neden Olan Yeni Bir Gen SNX14 Tanımlanması

ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., MAHMUT S., DURSUN A.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, 1, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

56. Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler Karakterizasyonu

KARACA M., ÖZGÜL R. K., Ünal Ö., YÜCEL YILMAZ D., Kılıç M., Burcu H., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)

57. Dirençli Hipoglisemi Hipertrofik Kardiyomiyopati ve Ensefalopatili Bir Hastada Ekzom Dizileme ile Mitokondriyal TSFM Gen Defekti

DURSUN A., ÖMER FARUK G., MELİS P., YÜCEL YILMAZ D., TOPÇU M., YALNIZOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

58. Ekzom Dizi Analizi ile MTO1 Mitochondriyal tRNA Modifier Geninde Saptanan Yeni Bir Mutasyon

YÜCEL YILMAZ D., ÖZGÜL R. K., ÖMER FARUK G., ESRA S., BETÜL Y., SAĞIROĞLU M., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015

59. Fenilketonüride yenilikler

DURSUN A.
Fenilketonüride yenilikler, Türkiye, 20 - 21 Şubat 2015

60. bilinmeyen nörometabolik hastalıklara yaklaşım

DURSUN A.
xııı ulusal metabolik hastalıklar ve beslenme kongresi, Türkiye, 14 - 18 Nisan 2015

61. Lecture Gathering data in databases for clinical purposes

DURSUN A.
ESHG-PPPC Course Genetics in health care: Practice and Policies, 12 - 15 Şubat 2015

62. Two adult siblings with progressive walking difficulty and visual disturbances

SİVRİ H. S., YILDIZ Y., Kiper P. O. S., DURSUN A., TOKATLI A., COŞKUN T.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri) identifier

63. Hereditary spastic paraplegia with predominant cerebel lar signs due to KIF1C mutation in two brothers

ÖZGÜL R. K., Esra s., YALNIZOĞLU D., YÜCEL YILMAZ D., TOPÇU M., ZZ G., et al.
SSIEM, 4 - 07 Eylül 2015, (Tam Metin Bildiri)

64. AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY

YİĞİT Ö., ÜNAL Ö., GENÇ G. A., HİŞMİ B., DURSUN A., TOKATLI A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE, 20 Ekim 2012, cilt.35, ss.145, (Özet Bildiri)

65. Üre döngüsü bozukluklarına ikincil neonatal hiperamonemik koma tedavisinde ammonul sodyum benzoat ve sodyum fenilasetat kullanımı

ÜNAL Ö., HİŞMİ B., SÜRMELİ ONAY Ö., TOKATLI A., SİVRİ H. S., DURSUN A., et al.
20. Ulusal Neonatoloji Kongresi (UNEKO-20), Türkiye, 15 - 18 Nisan 2012

66. A novel mutation in DGUOK gene in a Turkish newborn

KILIÇ M., DURSUN A., SİVRİ H. S., TOKATLI A., AKÇÖREN Z., YİĞİT Ş., et al.
J Inherit Metab Dis 2010;33(1):S81, P-229. (SSIEM, Annual Symposium, 2010, İstanbul, Turkey)., İstanbul, Türkiye, 31 Ağustos 2010, (Özet Bildiri)

67. Sialik Asit Depo Hastalığının Belirlenmesinde Nükleer Manyetik Rezonans Spektroskopisi

UZGÖREN BARAN A., AKBAY N., DURSUN A., COŞKUN T., İMAMOĞLU Y.
Metabolizmanın Regülasyonu ve Metabolik Bozukluklar Lisansüstü Yaz Okulu, Trabzon, Türkiye, 29 Haziran - 06 Temmuz 2008
Kitaplar 1

1. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.

KILIÇ M., ÖZGÜL R. K., COŞKUN T., YÜCEL YILMAZ D., KARACA M., SİVRİ H. S., et al.
JIMD Reports Case and Research Reports 2011 3, , Editör, SPRINGER, 2011
Metrikler

Yayın

207

Yayın (WoS)

139

Yayın (Scopus)

136

Atıf (WoS)

552

H-İndeks (WoS)

14

Atıf (Scopus)

690

H-İndeks (Scopus)

16

Proje

22

Açık Erişim

16
BM Sürdürülebilir Kalkınma Amaçları