Doç. Dr. YILMAZ YILDIZ

Yayın Ağı

Makaleler 87

1. The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Merkevicius K., Smirnov D., Schlieben L. D., Ganetzky R., Feichtinger R. G., Jiang H., et al.

Brain : a journal of neurology , 2025 (SCI-Expanded, Scopus)

2. Glutathione synthetase deficiency: severe hemolysis and metabolic acidosis with symptoms in the intrauterine period

Demirsu A., Aliyev F., Yucel E., ÇIKI K., YILDIZ Y., Urel-Demir G., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , 2025 (SCI-Expanded, Scopus)

3. A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

BALCI M. C., KOR D., YILDIZ Y., KARACA M., BULUT F. D., Kahraman A. B., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.20, sa.1, 2025 (SCI-Expanded, Scopus)

4. Newborn screening programs promote vaccine acceptance among parents in Turkey: a cross-sectional study

Erdal I., Kahraman A. B., YILDIZ Y., YALÇIN S. S.

POSTGRADUATE MEDICINE , cilt.137, sa.5, ss.423-438, 2025 (SCI-Expanded, Scopus)

5. The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

Donoghue S., Kumble S., Wasling P., Alberg L., Linton-Dahloef P., YILDIZ Y., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , 2025 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

6. A reply to the letter: comment on "newborn screening programs promote vaccine acceptance among parents in Turkey"

Erdal I., Kahraman A. B., YILDIZ Y., YALÇIN S. S.

POSTGRADUATE MEDICINE , 2025 (SCI-Expanded, Scopus)

7. 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)

8. 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)

9. Assessing sleep habits in school-aged children with phenylketonuria: a comparative study

Yesil A. M., AKAR H. T., YILDIZ Y., SİVRİ S., ÖZMERT E. N.

EUROPEAN JOURNAL OF PEDIATRICS , sa.3, 2025 (SCI-Expanded, Scopus)

10. 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)

11. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye

Ozsaydi Aktasoglu E., İNCİ A., ÖKTEM R. M., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.

TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.55, sa.3, 2025 (SCI-Expanded, Scopus, TRDizin)

12. 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)

13. Coexistence of Two Rare Conditions Complicating the Other's Management: Propionic Acidemia and Apert Syndrome

ENSERT CİHAN C. K., AKAR H. T., Ylldlz Y., SOĞUKPINAR M., ÜTİNE G. E., ÇELİK H. T.

Molecular Syndromology , cilt.15, sa.1, ss.83-88, 2024 (SCI-Expanded, Scopus)

14. Heavy Metal and Trace Element Status and Dietary Determinants in Children with Phenylketonuria

Erdal I., YILDIZ Y., YALÇIN S. S., YİRÜN A., ÇAKIR D. A., ERKEKOĞLU Ü. P.

NUTRIENTS , cilt.16, sa.20, 2024 (SCI-Expanded, Scopus)

15. Evaluation of Exposure to Bisphenol A, Bisphenol F, and Phthalates in Patients with Phenylketonuria and Its Differences According to Dietary Status

Erdal I., YILDIZ Y., YALÇIN S. S., YİRÜN A., DEMİREL G., ERKEKOĞLU Ü. P.

NUTRIENTS , cilt.16, sa.18, 2024 (SCI-Expanded, Scopus)

16. Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Erdal İ., Yıldız Y., Kuseyri Hübschmann O., Haas D., Günbey C., Ertuğrul İ., et al.

Journal of pediatric endocrinology & metabolism : JPEM , cilt.37, ss.741-744, 2024 (SCI-Expanded, Scopus)

17. Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist.

Baltu D., Serin O., Aksu T., Hızarcıoğlu Gülşen H., Orhan D., Yıldız Y., et al.

Journal of nephrology , 2024 (SCI-Expanded, Scopus)

18. Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals.

Zubarioglu T., Kıykım E., Köse E., Eminoğlu F. T., Teke Kısa P., Balcı M. C., et al.

Molecular genetics and metabolism , cilt.142, sa.2, ss.108493, 2024 (SCI-Expanded, Scopus)

19. 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)

20. The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Julia-Palacios N. A., Kuseyri Hübschmann O., Olivella M., Pons R., Horvath G., Lücke T., et al.

Journal of inherited metabolic disease , 2024 (SCI-Expanded, Scopus)

21. Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian D., Waldner B., Vogel G. F., El-Gharbawy A. H., McKiernan P., Vockley J., et al.

Journal of inherited metabolic disease , cilt.47, sa.2, ss.220-229, 2024 (SCI-Expanded, Scopus)

22. 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)

23. Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey

Ersak A. Ş., Çak H. T., YILDIZ Y., Çavdar M., Tunç S., ÖZER N., et al.

Molecular Genetics and Metabolism , cilt.141, sa.1, 2024 (SCI-Expanded, Scopus)

24. 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)

25. A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.

Inan B., Azman F., Aktas D., Yildiz Y., Saygi S.

Acta neurologica Belgica , cilt.123, sa.5, ss.1985-1987, 2023 (SCI-Expanded, Scopus)

26. Preliminary evaluation of potential urinary organic acid biomarkers with mass spectrometry in children with autism spectrum disorder

Sertoglu E., Balik A. R., Duman U. G., Mavis M. E., Arslan M., YILDIZ Y., et al.

Research in Autism Spectrum Disorders , cilt.106, 2023 (SSCI, Scopus)

27. Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Yıldız Y., Kuseyri Hübschmann O., Akgöz Karaosmanoğlu A., Manti F., Karaca M., Schwartz I. V. D., et al.

Journal of inherited metabolic disease , 2023 (SCI-Expanded, Scopus)

28. 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)

29. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury

Akar H. T., Yıldız Y., Mutluay R., Tekin E., Tokatlı A.

CEN CASE REPORTS , cilt.2023, 2023 (ESCI, Scopus)

30. Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

KAHRAMAN A. B., YILDIZ Y., GÖKMEN ÖZEL H., KADAYIFÇILAR S., SİVRİ S.

Neuromuscular Disorders , cilt.33, sa.4, ss.315-318, 2023 (SCI-Expanded, Scopus)

31. Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Erdal İ., YILDIZ Y., ÖNAL G., AKTEPE O. H., Düzgün S. A., Sağlam A., et al.

Endocrine, Metabolic and Immune Disorders - Drug Targets , cilt.23, sa.2, ss.230-234, 2023 (SCI-Expanded, Scopus)

32. The Türkiye-Syria Earthquake: a response from the editors of the Turkish Journal of Pediatrics

DÜZOVA A., AKGÜL S., ÜTİNE G. E., YILDIZ Y.

Turkish Journal of Pediatrics , cilt.65, sa.1, ss.1-2, 2023 (SCI-Expanded, Scopus)

33. Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

KAHRAMAN A. B., Karakaya B., YILDIZ Y., KAMACI S., KESİCİ S., ŞİMŞEK KİPER P. Ö., et al.

Neuromuscular Disorders , cilt.32, sa.11-12, ss.931-934, 2022 (SCI-Expanded, Scopus)

34. Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Seker Yilmaz B., Baruteau J., ARSLAN N., AYDIN H. İ., Barth M., Bozaci A. E., et al.

LIFE-BASEL , cilt.12, sa.11, 2022 (SCI-Expanded, Scopus)

35. A Novel Double Homozygous BTD Gene Mutation in A Case of Profound Biotinidase Deficiency

DEVECİ K., AKAR H. T., YILDIZ Y., ÖZGÜL R. K.

Türkiye Çocuk Hastalıkları Dergisi , 2022 (TRDizin)

36. Liver-Directed Adeno-Associated Virus\u2013Mediated Gene Therapy for Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., Rossi A., Fecarotta S., Romano R., et al.

NEJM Evidence , cilt.1, 2022 (Hakemli Dergi)

37. A Child with Developmental Regression and Electroencephalographic Abnormalities

Çlkl K., Ylldlz Y., Güleray Lafcl N., LAY İ., Anlar B.

Clinical Chemistry , cilt.68, sa.6, ss.858-860, 2022 (SCI-Expanded, Scopus)

38. Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases

KAHRAMAN A. B., AKAR H. T., Lafci N. G., YILDIZ Y., Tokatli A.

MOLECULAR SYNDROMOLOGY , cilt.13, sa.3, ss.193-199, 2022 (SCI-Expanded, Scopus)

39. Comment on the "NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure".

Yildiz Y., Tokatli A.

Journal of pediatric gastroenterology and nutrition , cilt.74, 2022 (SCI-Expanded, Scopus)

40. Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

Özkale Yavuz Ö., Ayaz E., Yıldız Y., Karaosmanoğlu A., Bulut E. G., Sivri H. S., et al.

DIAGNOSTIC AND INTERVENTIONAL RADIOLOGY , cilt.1, ss.1-18, 2022 (SCI-Expanded, Scopus, TRDizin)

41. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Scala M., Wortmann S. B., Kaya N., Stellingwerff M. D., Pistorio A., Glamuzina E., et al.

HUMAN MUTATION , cilt.43, sa.3, ss.403-419, 2022 (SCI-Expanded, Scopus)

42. Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset

Capiau S., Smet J., De Paepe B., YILDIZ Y., Arslan M., Stevens O., et al.

CELLS , cilt.11, sa.3, 2022 (SCI-Expanded, Scopus)

43. Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family Genetische Beratung bei Phenylketonurie, kompliziert durch nicht diagnostizierte elterliche Hyperphenylalaninämie in einer einzigen Familie

Çlkl K., Özgül R. K., Yildiz Y.

Klinische Padiatrie , 2022 (SCI-Expanded, Scopus)

44. Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency.

Vuralli D., Yildiz Y., Ozon A., Dursun A., Gonc N., Tokatlı A., et al.

Journal of clinical research in pediatric endocrinology , cilt.14, ss.275-286, 2022 (SCI-Expanded, Scopus, TRDizin)

45. Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

Akar H. T., Yıldız Y., Güvenkaya G., Çıkı K., Kahraman A. B., Erdal İ., et al.

Balkan medical journal , cilt.39, ss.345-350, 2022 (SCI-Expanded, Scopus, TRDizin)

46. The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders

Olgaci A., KASAPKARA Ç. S., Acikel B., Yildiz Y., Molla G. K., Kilic M.

JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.4, ss.370-376, 2021 (ESCI, TRDizin)

47. 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)

48. Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Keller M., Brennenstuhl H., Kuseyri Hübschmann O., Manti F., Julia Palacios N. A., Friedman J., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.44, sa.6, ss.1489-1502, 2021 (SCI-Expanded, Scopus)

49. Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

YILDIZ Y., SİVRİ H. S.

TURKISH ARCHIVES OF PEDIATRICS , cilt.56, sa.6, ss.602-609, 2021 (ESCI, TRDizin)

50. Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening.

Çıkı K., Akar H. T., Özgül R. K., Gülbakan B., Yıldız Y.

Clinical chemistry , cilt.67, sa.10, ss.1428-1431, 2021 (SCI-Expanded, Scopus)

51. Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings

Yıldız Y., Koşukcu C., Aygün D., Akçaboy M., Öztek Çelebi F. Z., Taşcı Yıldız Y., et al.

CLINICAL GENETICS , cilt.100, sa.3, ss.308-317, 2021 (SCI-Expanded, Scopus)

52. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Kuseyri Hübschmann O., Horvath G., Cortès-Saladelafont E., Yıldız Y., Mastrangelo M., Pons R., et al.

NATURE COMMUNICATIONS , cilt.12, sa.1, 2021 (SCI-Expanded, Scopus)

53. COVID-19-related anxiety in phenylketonuria patients

Akar H. T., Karaboncuk Y., Çıkı K., Kahraman A. B., Erdal İ., Coşkun T., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.63, sa.5, ss.790-800, 2021 (SCI-Expanded, Scopus)

54. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia

Bayrak H., Yıldız Y., Olgaç A., Kasapkara Ç. S., Küçükcongar A., Zenciroğlu A., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1213-1222, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

55. DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Çıkı K., Yıldız Y., Yücel Yılmaz D., Pektaş E., Tokatlı A., Özgül R. K., et al.

METABOLIC BRAIN DISEASE , cilt.36, sa.6, ss.1405-1410, 2021 (SCI-Expanded, Scopus)

56. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Hübschmann O. K., Mohr A., Friedman J., Manti F., Horvath G., Cortès-Saladelafont E., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.44, sa.4, ss.1070-1082, 2021 (SCI-Expanded, Scopus)

57. Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl

Torun E., Yildiz Y., Yazici M., Çolak F., Kasapkara C.

KLINISCHE PADIATRIE , cilt.233, sa.04, ss.203-205, 2021 (SCI-Expanded, Scopus)

58. Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency

AKAR H. T., Çağan M., YILDIZ Y., SİVRİ H. S.

NEUROMUSCULAR DISORDERS , cilt.31, sa.6, ss.566-569, 2021 (SCI-Expanded, Scopus)

59. Safety and Efficacy of Liver-Directed Gene Therapy in Patients with Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., Rossi A., Fecarotta S., Romano R., et al.

MOLECULAR THERAPY , cilt.29, sa.4, ss.114, 2021 (SCI-Expanded, Scopus)

60. Oral health status of children and young adults with maple syrup urine disease in Turkey.

Ballikaya E., Yildiz Y., Koç N., Tokatli A., Uzamis Tekcicek M., Sivri H. S.

BMC oral health , cilt.21, ss.8, 2021 (SCI-Expanded, Scopus)

61. Invisible burden of COVID-19: enzyme replacement therapy disruptions

Kahraman A. B., Yıldız Y., Çıkı K., Akar H. T., Erdal İ., Dursun A., et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.5, ss.539-545, 2021 (SCI-Expanded, Scopus)

62. Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder

Yıldız Y., Göçmen R., Yaramış A., Coşkun T., Haliloğlu G.

PEDIATRICS , cilt.146, sa.5, 2020 (SCI-Expanded, Scopus)

63. 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

64. Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

Nakip O. S., YILDIZ Y., TOKATLI A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.6, ss.721-728, 2020 (SCI-Expanded, Scopus)

65. Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant

Yıldız Y., Uysal Y., Çınar H., Özbay H., Kurt Ç., Kılıç M.

PANCREATOLOGY , cilt.20, sa.4, ss.644-646, 2020 (SCI-Expanded, Scopus)

66. 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)

67. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., SİVRİ H. S., YILDIZ Y., et al.

ORPHANET JOURNAL OF RARE DISEASES , cilt.15, sa.1, 2020 (SCI-Expanded, Scopus)

68. 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)

69. Comment on: "Multiple acyl-CoA dehydrogenase deficiency in elderly carriers"

YILDIZ Y., TOKATLI A.

JOURNAL OF NEUROLOGY , cilt.267, sa.4, ss.1209-1210, 2020 (SCI-Expanded, Scopus)

70. 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)

71. When Pancreatitis Stinks A Rare Cause of Acute Recurrent Pancreatitis in a Child

YILDIZ Y., Sahin G., Hosnut F. O.

PANCREAS , cilt.49, sa.1, 2020 (SCI-Expanded, Scopus)

72. Inborn errors of metabolism in the differential diagnosis of fatty liver disease

YILDIZ Y., SİVRİ H. S.

TURKISH JOURNAL OF GASTROENTEROLOGY , cilt.31, sa.1, ss.3-16, 2020 (SCI-Expanded, Scopus, TRDizin)

73. Infant Acute Lymphoblastic Leukemia with Atypical Presentation

YAMAN BAJİN H. İ., YILDIZ Y., akın ş., AYTAÇ EYÜPOĞLU Ş. S., ÜNAL CANGÜL Ş., KUŞKONMAZ B. B., et al.

Acta Medica , cilt.50, sa.4, ss.57-59, 2019 (TRDizin)

74. Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency

YILDIZ Y., Azapagasi E.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH , cilt.55, sa.11, ss.1395-1396, 2019 (SCI-Expanded, Scopus)

75. 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)

76. Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

YILDIZ Y., SİVRİ H. S.

EUROPEAN JOURNAL OF PEDIATRICS , cilt.178, sa.7, ss.1005-1011, 2019 (SCI-Expanded, Scopus)

77. Cognitive and behavioral impairment in mild hyperphenylalaninemia

Evinç S., Pektaş E., Foto-Özdemir D., Yıldız Y., Karaboncuk Y., Bilginer-Gürbüz B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.60, sa.6, ss.617-624, 2018 (SCI-Expanded, Scopus, TRDizin)

78. Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy

YILDIZ Y., Olsen R. K. J., SİVRİ H. S., AKÇÖREN Z., Nygaard H. H., TOKATLI A.

NEUROMUSCULAR DISORDERS , cilt.28, sa.9, ss.787-790, 2018 (SCI-Expanded, Scopus)

79. Oral health status in patients with mucopolysaccharidoses

BALLIKAYA E., Eymirli P. S., YILDIZ Y., AVCU N., SİVRİ H. S., Uzamis-Tekcicek M.

TURKISH JOURNAL OF PEDIATRICS , cilt.60, sa.4, ss.400-406, 2018 (SCI-Expanded, Scopus, TRDizin)

80. Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)

Vuralli D., YILDIZ Y., SİVRİ H. S., ALİKAŞİFOĞLU A.

HORMONE RESEARCH IN PAEDIATRICS , cilt.90, ss.362-363, 2018 (SCI-Expanded, Scopus)

81. Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment

YILDIZ Y., Pektas E., TOKATLI A., Haliloglu G.

NEUROPEDIATRICS , cilt.48, sa.1, ss.49-52, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

82. 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

83. Kalıtsal Metabolik Hastalıklarda Dental Bulgular

YILDIZ Y., SİVRİ H. S.

Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular , cilt.2, sa.2, ss.28-33, 2016 (Hakemli Dergi)

84. 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)

85. Mukopolisakkaridozlarda ortopedik sorunlar

YILDIZ Y., SİVRİ H. S.

TOTBİD Dergisi , cilt.15, sa.4, ss.303-310, 2016 (Hakemli Dergi)

86. Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation

OZDEMIR C., Akpulat U., SHARAFI P., YILDIZ Y., ONBAŞILAR İ., Kocaefe C.

GENE , cilt.553, sa.2, ss.130-139, 2014 (SCI-Expanded, Scopus)

87. Localized acute generalized exanthematous pustulosis with amoxicillin and clavulanic acid

Ozkaya-Parlakay A., Azkur D., KARA A., YILDIZ Y., ORHAN D., CENGİZ A. B., et al.

TURKISH JOURNAL OF PEDIATRICS , cilt.53, sa.2, ss.229-232, 2011 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 25

1. Çocukluk Çağı Hiperlipidemileri

Yıldız Y.

14. Ulusal Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Kongresi, İskele, Kıbrıs (Kktc), 12 - 15 Mayıs 2022, ss.1-9, (Tam Metin Bildiri)

2. Yağlı Karaciğer Hastalığının Ayırıcı Tanısında Kalıtsal Metabolik Hastalıklar: Kimde Düşünelim, Nasıl Teşhis Edelim?

Yıldız Y.

38. Ulusal Gastroenteroloji Haftası, Antalya, Türkiye, 16 - 21 Kasım 2021, (Yayınlanmadı)

3. Corporate Cash Holdings in Energy Industry: Evidence from European Firms

YILDIZ Y., KARAN M. B.

Multinational Finance Society, Kudus, Endonezya, 30 Haziran - 02 Temmuz 2019, (Özet Bildiri)

4. Stock price crash risk of alternative energy firms: The role of national culture and environmental performance

YILDIZ Y., KARAN M. B.

Multinational Energy and Value Conference, Ankara, Türkiye, 23 - 25 Mayıs 2019, (Özet Bildiri)

5. Liver-Directed Gene Therapy Clinical Trial for Mucopolysaccharidosis Type VI

Brunetti-Pierri N., Ferla R., Ginocchio V. M., YILDIZ Y., Fecarotta S., Zancan S., et al.

22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, Kiribati, 29 Nisan - 02 Mayıs 2019, cilt.27, ss.36-37, (Özet Bildiri)

6. Corporate Cash Holdings in European Oil and Gas Producers: The role of energy directives

YILDIZ Y., KARAN M. B.

ISINI Conference, Wraclaw, Polonya, 30 - 31 Ağustos 2018, (Özet Bildiri)

7. Is Conservative Reporting Attractive to Foreign Institutional Investors? Evidence from an Emerging Market

KARAN M. B., OZKAN A., YILDIZ Y.

Twenty-fifth Annual Conference of Multinational Finance Society, Budapest, Macaristan, 24 - 27 Haziran 2018, (Özet Bildiri)

8. 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)

9. 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)

10. 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)

11. Momentum or Market? Determinants of Large Price Changes in Stock Prices During Pre- and Post-Crisis Periods

YILDIZ Y., KARAN M. B.

Twenty-fourth Annual Conference of the Multinational Finance Society, Bukres, Romanya, 25 - 28 Haziran 2017, (Özet Bildiri)

12. 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)

13. 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)

14. 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)

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. 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)

17. 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)

18. 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)

19. 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)

20. 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)

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. 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)

23. Klf5 acts as a differentiation switch from proliferation to fusion in myoblasts

Akpulat U., YILDIZ Y., Ozdemir-Saka C., Akcay D., Kocaefe C.

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.114, (Özet Bildiri)

24. 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)

25. 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)

Kitaplar 10

Metrikler

Yayın

122

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

207

H-İndeks (WoS)

Atıf (Scopus)

417

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Sobiad)

H-İndeks (Sobiad)

Atıf (Diğer Toplam)

Proje

Tez Danışmanlığı

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

Yayınlar & Eserler

Yayın

Yayın (WoS)

Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Sobiad)

H-İndeks (Sobiad)

Atıf (Diğer Toplam)

Proje

Tez Danışmanlığı

Açık Erişim