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Prof. Dr. Serap Sivri

Prof. Dr.

Serap Sivri

Metabolism · Kinderklinik

Termin vereinbaren0312 305 11 41

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About

Married and has a daughter

Graduated in Ankara University Faculty of Medicine.

Residency and Subspeciality training in Hacettepe University Faculty of Medicine Department of Pediatrics, Section of Metabolism at Children’s Hospital

Her major interest is in the diagnosis and treatment of inherited metabolic disorders mainly phenylketonuria, organic acidaemias, and lysosomal storage diseases. She is responsible for treatment of inherited metabolic disorders both inpatient and outpatient clinic.

She had been worked at The John F. Kennedy Insititute for a year period and had been participated some projects there where is one of most well-known center in the metabolic field.

She had been following many national and international projects and researches on both nutrition and metabolism. She is an expertise in inborn errors of metabolism and their treatment and author of more than 30 papers on peer review international journals.

Fortbildung

  1. 2012
    Çocuk Metabolizma Hastalıkları
    Hacettepe Üniversitesi
  2. 1996
    MSc — Çocuk Sağlığı ve Hastalıkları
    Hacettepe Üniversitesi
  3. 1991
    Tıp Fakültesi
    Ankara Üniversitesi
  4. 1985
    Ankara Kocatepe Mimar Kemal Lisesi

Publications

Source: Hacettepe University academic database (AVESİS) · All publications (126) ↗

Articles 67

  1. Nutritional Status and Physical Activity Levels in Adult Patients with PhenylketonuriaKalkan D., YILDIZ Y., KARANFİL Y., KORKUSUZ F., DURSUN A., SİVRİ S., et al.Nutrients, cilt.18, sa.11, 2026 (SCI-Expanded, Scopus)
  2. Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management ConsensusMungan N. O., TÜMER L., SİVRİ S., ARSLAN N., Ucar S. K., Seker Yilmaz B., et al.Healthcare (Switzerland), cilt.14, sa.9, 2026 (SCI-Expanded, SSCI, Scopus)
  3. MOLİBDEN KOFAKTÖR EKSİKLİĞİ-TEK MERKEZ DENEYİMİKOÇYİĞİT A., Tıraş B., Ersak A. Ş., Çıkı K., YILDIZ Y., Dursun A., et al.Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, cilt.28, sa.1, ss.84-89, 2026 (TRDizin)
  4. Clinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndromede Souza C. F., Burton B. K., Campeau P. M., Giugliani R., Guffon N., Lampe C., et al.Molecular Genetics and Metabolism Reports, cilt.46, 2026 (SCI-Expanded, Scopus)
  5. Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuriaKAHRAMAN 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)
  6. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohortAKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.38, sa.4, ss.399-405, 2025 (SCI-Expanded, Scopus)
  7. Assessing sleep habits in school-aged children with phenylketonuria: a comparative studyYesil A. M., AKAR H. T., YILDIZ Y., SİVRİ S., ÖZMERT E. N.EUROPEAN JOURNAL OF PEDIATRICS, cilt.184, sa.3, 2025 (SCI-Expanded, Scopus)
  8. Impact of the COVID-19 Era on Phenylalanine Levels and Classical Phenylketonuria Patients Follow-Up: A Retrospective AnalysisKAHRAMAN 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)
  9. High prevalence of low bone mineral density in young adults with phenylketonuriaÇIKI K., KAHRAMAN A. B., AKAR H. T., YILDIZ Y., DURSUN A., Tokatli A., et al.POSTGRADUATE MEDICINE, cilt.137, sa.1, ss.86-92, 2025 (SCI-Expanded, Scopus)
  10. Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuriaWhitehall K. B., Rose S., Clague G. E., Ahring K. K., Bilder D. A., Harding C. O., et al.ORPHANET JOURNAL OF RARE DISEASES, cilt.19, sa.1, 2024 (SCI-Expanded, Scopus)
  11. Meta-analysis of bone mineral density in adults with phenylketonuriaRocha J. C., Hermida A., Jones C. J., Wu Y., Clague G. E., Rose S., et al.ORPHANET JOURNAL OF RARE DISEASES, cilt.19, sa.1, 2024 (SCI-Expanded, Scopus)
  12. Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria SeverityPinto A., Ahring K., Almeida M. F., Ashmore C., Belanger-Quintana A., Burlina A., et al.NUTRIENTS, cilt.16, sa.17, 2024 (SCI-Expanded, Scopus)
  13. 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)
  14. The struggle that is phenylketonuria: What do the patients and caregivers suffer fromDEMİREL D., SİVRİ S.MEDICINE, cilt.103, sa.25, 2024 (SCI-Expanded, Scopus)
  15. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapyÇIKI 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)
  16. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with PhenylketonuriaRocha J. C., Ahring K. K., Bausell H., Bilder D. A., Harding C. O., Inwood A., et al.Nutrients, cilt.15, sa.18, 2023 (SCI-Expanded, Scopus)
  17. Efficacy of Tele-CO-OP in Children With Organic Acidemia: A Pilot Randomized Controlled TrialDursun E. L., BUMİN G., ÇIKI K., SİVRİ S.OTJR Occupation, Participation and Health, sa.3, ss.417-425, 2023 (SSCI, Scopus)
  18. COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severityKAHRAMAN 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)
  19. Successful management of rhabdomyolysis with triheptanoin in a child with severe long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiencyKAHRAMAN A. B., YILDIZ Y., GÖKMEN ÖZEL H., KADAYIFÇILAR S., SİVRİ S.Neuromuscular Disorders, cilt.33, sa.4, ss.315-318, 2023 (SCI-Expanded, Scopus)
  20. Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case ReportErdal 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)
  21. Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspectiveAkgun A., Gokcay G., Mungan N. O., Sivri H. S., TEZER H., Zeybek C. A., et al.Frontiers in Public Health, cilt.11, 2023 (SCI-Expanded, SSCI, Scopus)
  22. Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolismÜNSAL 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)
  23. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approachBurton B. K., Hermida A., Belanger-Quintana A., Bell H., Bjoraker K. J., Christ S. E., et al.MOLECULAR GENETICS AND METABOLISM, cilt.137, sa.1-2, ss.114-126, 2022 (SCI-Expanded, Scopus)
  24. Does glutaric aciduria type 1 affect hearing function?ÖZGEDİK D., TOKGÖZ YILMAZ S., BİLGİNER GÜRBÜZ B., SİVRİ H. S., SENNAROĞLU G.METABOLIC BRAIN DISEASE, cilt.37, sa.6, ss.2121-2132, 2022 (SCI-Expanded, Scopus)
  25. Recommendations on phenylketonuria in TurkeyCOŞKUN 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)
  26. A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trialsBurton B. K., Skalicky A., Baerwald C., Bilder D. A., Harding C. O., Ilan A. B., et al.MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.29, 2021 (SCI-Expanded, Scopus)
  27. Difficulties Associated with Enzyme Replacement Therapy for MucopolysaccharidosesYILDIZ Y., SİVRİ H. S.TURKISH ARCHIVES OF PEDIATRICS, cilt.56, sa.6, ss.602-609, 2021 (ESCI, TRDizin)
  28. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at <4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trialMuntau A. C., Burlina A., Eyskens F., Freisinger P., Leuzzi V., SİVRİ H. S., et al.ORPHANET JOURNAL OF RARE DISEASES, cilt.16, sa.1, 2021 (SCI-Expanded, Scopus)
  29. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variantBİLGİNER 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)
  30. Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiencyAKAR H. T., Çağan M., YILDIZ Y., SİVRİ H. S.NEUROMUSCULAR DISORDERS, cilt.31, sa.6, ss.566-569, 2021 (SCI-Expanded, Scopus)
  31. Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III PatientsBİLGİNER 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)
  32. Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VIISİVRİ H. S., ERDÖL Ş.MOLECULAR GENETICS AND METABOLISM, cilt.132, sa.2, 2021 (SCI-Expanded, Scopus)
  33. Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosisYİĞİT Ö., AKSOY S., Akyol U., TOKATLI A., SİVRİ H. S.JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.5, ss.583-589, 2021 (SCI-Expanded, Scopus)
  34. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patientsBİLGİNER 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)
  35. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency departmentYILDIZ 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)
  36. Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesOpladen 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)
  37. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in EuropeYILDIZ 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)
  38. Oral health status of children with phenylketonuriaBALLIKAYA 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)
  39. Inborn errors of metabolism in the differential diagnosis of fatty liver diseaseYILDIZ Y., SİVRİ H. S.TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.31, sa.1, ss.3-16, 2020 (SCI-Expanded, Scopus, TRDizin)
  40. Infant Acute Lymphoblastic Leukemia with Atypical PresentationYAMAN 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)
  41. The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosisBİLGİNER 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)
  42. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase DeficiencyYILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., et al.PEDIATRIC NEUROLOGY, cilt.99, ss.69-75, 2019 (SCI-Expanded, Scopus)
  43. Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospitalÖZCAN 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)
  44. Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in managementYILDIZ Y., SİVRİ H. S.EUROPEAN JOURNAL OF PEDIATRICS, cilt.178, sa.7, ss.1005-1011, 2019 (SCI-Expanded, Scopus)
  45. Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancyYILDIZ 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)
  46. Oral health status in patients with mucopolysaccharidosesBALLIKAYA 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)
  47. Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRIBulut E., Pektas E., SİVRİ H. S., BİLGİNER B., UMAROĞLU M. M., Ozgen B.BRITISH JOURNAL OF RADIOLOGY, cilt.91, sa.1085, 2018 (SCI-Expanded, Scopus)
  48. 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)
  49. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trialMuntau A. C., Burlina A., Eyskens F., Freisinger P., De Laet C., Leuzzi V., et al.ORPHANET JOURNAL OF RARE DISEASES, cilt.12, 2017 (SCI-Expanded, Scopus)
  50. Kalıtsal Metabolik Hastalıklarda Dental BulgularYILDIZ Y., SİVRİ H. S.Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular, cilt.2, sa.2, ss.28-33, 2016 (Hakemli Dergi)
  51. Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type IAtceken 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)
  52. Mukopolisakkaridozlarda ortopedik sorunlarYILDIZ Y., SİVRİ H. S.TOTBİD Dergisi, cilt.15, sa.4, ss.303-310, 2016 (Hakemli Dergi)
  53. Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorderYILDIZ 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)
  54. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age fourÖZLEM 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)
  55. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screeningKARACA 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)
  56. Prevalence of Anti-Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy TrialFERLA R., CLAUDIANI P., SAVARESE M., KOZARSKY K., PARINI R., SCARPA M., et al.HUMAN GENE THERAPY, cilt.26, sa.3, ss.145-152, 2015 (SCI-Expanded, Scopus)
  57. 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)
  58. Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airwayGONULDAS 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)
  59. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probandsKaraca 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)
  60. Rizomelik kondrodisplazi punktata: Bir vaka takdimiZENGİN AKKUŞ P., TAKCI Ş., UTİNE G. E., SİVRİ H. S., YURDAKÖK M.Çocuk Sağlığı ve Hastalıkları Dergisi, cilt.56, sa.4, ss.188-191, 2013 (Scopus)

All 67 on AVESİS →

Conference papers 57

  1. Lizinürik Protein İntoleransının Nadir Renal Tutulumu: Membranoproliferatif GlomerülonefritBALTU D., ÖZDEMİR E. G., GÜLHAN B., TAŞTEMEL ÖZTÜRK T., KURT ŞÜKÜR E. D., SİVRİ H. S., et al.5. ÇOCUK NEFROLOJİ E-OLGU PANAYIRI, Online, Türkiye, 4 - 05 Aralık 2020, ss.34, (Tam Metin Bildiri)
  2. Listening Parents Caring A Child With PhenylketonuriaZENGİN 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)
  3. Fenilketonüri ile Yaşamak: Anne Ve Babaların PenceresindenZENGİN 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)
  4. Hyperphenylalaninemia due to novel JCDNA12 mutationSİVRİ 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)
  5. THE BURDEN OF ILLNESS IN ADULTS WITH PHENYLKETONURIA (PKU): INTERIM ANALYSIS OF A CROSS-SECTIONAL STUDY CONDUCTED IN NORTH AMERICA AND EUROPEBurton B., Longo N., Maillot F., Rahman Y., Singh R., SİVRİ H. S., et al.41st Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Washington, Amerika Birleşik Devletleri, 6 - 09 Nisan 2019, cilt.126, ss.293, (Özet Bildiri)
  6. Mukopolisakkaridozlu (MPS) Çocuklarda Otomatik ve İstemli Motor Kontrol Performanslarının İncelenmesi:Pilot ÇalışmaYİĞİT Ö., AKSOY S., SİVRİ H. S.13.Uluslararası Kulak Burun Boğaz ve Baş Boyun Cerrahisi Kongresi, 5 - 07 Nisan 2018, ss.52, (Özet Bildiri)
  7. Presenting signs and symptoms of MPS: Results of an international physician surveyMitchell J., Clarke L., Ellaway C., Foster H., Giugliani R., Goizet C., et al.We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, Amerika Birleşik Devletleri, 5 - 09 Şubat 2018, cilt.123, (Özet Bildiri)
  8. Presenting signs and symptoms of MPS: Results of a systematic literature analysisMitchell J., Clarke L., Ellaway C., Fosters H., Giugliani R., Goizet C., et al.We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, Amerika Birleşik Devletleri, 5 - 09 Şubat 2018, cilt.123, (Özet Bildiri)
  9. Oxysterol levelsas oxidative stress biomarkers in organic acidemia patientsEraslan 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)
  10. Biotin May Lead To High Free Thyroxine Levels in Some Immunoassay MethodsPORTAKAL 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)
  11. A rare cause of cutaneous ulceration: Prolidase deficiencyISAZADE E., ELÇİN G., DOĞAN GÜNAYDIN S., GÖKÖZ Ö., BİLGİNER GÜRBÜZ B., ORHAN D., et al.26.eadv CONGRESS, 13 - 17 Eylül 2017, (Özet Bildiri)
  12. 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)
  13. 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)
  14. Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and OutcomesSİVRİ 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)
  15. Three-year experience of pediatric physicians with adult inpatient consultationsYILDIZ 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)
  16. The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patientsBİLGİNER 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)
  17. Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyimYILDIZ 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)
  18. Etilmelonik ensefalopati: vaka sunumuPEKTAŞ 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)
  19. Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk SonuçlarPEKTAŞ 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)
  20. Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesiGÖKMEN 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)
  21. 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)
  22. Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesiYILMAZ 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)
  23. 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)
  24. Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısıYILMAZ 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)
  25. presentation of classical galaktosemia with positive neborn screeningDURSUN A., bozat a., BİLGİNER GÜRBÜZ B., PEKTAŞ E., SİVRİ H. S., TOKATLI A., et al.MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
  26. A27 Prenatal findings and autopsy examination in a newborn with multiple acyl CoA dehydrogenase deficiency Abstract Book A27 p 85TOKATLI 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)
  27. adult form metachormatic leuucodistrohy caused by a novel mutationBİLGİNER GÜRBÜZ B., khasiyer f., KARLI OĞUZ H. K., karabudak r., DURSUN A., TOKATLI A., et al.MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
  28. a rare lysosomal storage diseaseCOŞKUN T., canoruç d., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., et al.MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
  29. Presentation of classic galactosemia with positive newborn screening for hyperphenylalaninemiaDURSUN 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)
  30. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemiaEvinç 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)
  31. 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 9Evinç 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)
  32. Optic neuropathy a rare late complication in methylmalonicacidemiaBİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., TOKATLI A., COŞKUN T.SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
  33. Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficitDURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S., YILDIZ Y.SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
  34. Short term outcome of surgical correction of genu valgum in fourpatients with mucopolysaccharidosis type IVSİVRİ H. S., aksoy m., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., TOKATLI A., et al.SSIEM RDMA, 6 Eylül - 09 Haziran 2016, (Özet Bildiri)
  35. Phenotypic variability and clinical biochemical histological andmolecular genetic characteristics of 17 patients with multipleacyl CoA dehydrogenase deficiencyTOKATLI A., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., COŞKUN T.SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
  36. Adult mucopolysaccharidosis type VI patient with severe cervicalcord compression at diagnosisSİVRİ H. S., mocan ö., DURSUN A., TOKATLI A., COŞKUN T.SSIEM roma, 6 - 09 Eylül 2016, (Özet Bildiri)
  37. argininosüccinic acidüria associated with pancreatitisDURSUN A., SİVRİ H. S., AKÇÖREN Z., TOKATLI A., COŞKUN T.SSIEM, 6 - 09 Eylül 2016, (Özet Bildiri)
  38. Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiencyDOKUZBOY S., TALİM B., YİĞİT Ş., SİVRİ H. S., TOKATLI A., DURSUN A., et al.SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
  39. the fist case of phenylketonuria with tyrosinemai type IIICOŞKUN T., BİLGİNER GÜRBÜZ B., DURSUN A., SİVRİ H. S., TOKATLI A.SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
  40. Mukopolisakkaridozlu hastaların solunum kas kuvveti ve egzersiz kapasitelerinin değerlendirilmesiBOZDEMİR ÖZEL C., ÇAKMAK A., SONBAHAR H., İNAL İNCE D., SAĞLAM M., VARDAR YAĞLI N., et al.Türk Toraks Derneği 19.Yıllık Kongresi Bildiri, Türkiye, 6 - 10 Nisan 2016, ss.191, (Özet Bildiri)
  41. Hyperlysinemia in a child and his motherPEKTAŞ E., Burcu h., Özlem u., DURSUN A., SİVRİ H. S., TOKATLI A., et al.SSIEM, 4 - 07 Eylül 2015
  42. Partial biotinidase deficiency with late onset severe cutaneous manifestationsSİVRİ H. S., yıldız Y., PEKTAŞ E., KK C., ALEHAN D., DURSUN A., et al.SSIEM, 4 - 07 Eylül 2015
  43. A rare metabolic disease succinic semialdehyde dehydrogenase deficiencyTOKATLI A., PEKTAŞ E., yıldız Y., Özlem u., DURSUN A., SİVRİ H. S., et al.SSIEM, 4 - 07 Eylül 2015
  44. Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduriaYÜCEL YILMAZ D., ÖZGÜL R. K., Özlem u., COŞKUN T., SİVRİ H. S., TOKATLI A., et al.SSIEM, 4 - 07 Eylül 2015
  45. Two Cases with Mucopolysaccharidosis Type VII Sly s SyndromeSİVRİ H. S., PEKTAŞ E., DURSUN A., TOKATLI A., COŞKUN T.SSIEM, 4 - 07 Eylül 2015
  46. Coexistence of phenylketonuria and primary adrenal insufficiencyCOŞKUN T., PEKTAŞ E., GG b., DURSUN A., SİVRİ H. S., TOKATLI A.SSIEM, 4 - 07 Eylül 2015
  47. Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy TrialFerla R., Claudiani P., Savarese M., Kozarsky K., Parini R., Scarpa M., et al.18th Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Louisiana, Amerika Birleşik Devletleri, 13 - 16 Mayıs 2015, cilt.23, (Özet Bildiri)
  48. Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler KarakterizasyonuKARACA 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)
  49. Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisiKılıç 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)
  50. Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen DefektiÖZGÜL 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
  51. Two adult siblings with progressive walking difficulty and visual disturbancesSİVRİ 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)
  52. AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPYYİĞİT 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)
  53. Mukopolisakkaridozlu olgularda fonksiyonel egzersiz kapasitesi ağrı ve postural bozukluk şiddetiİNAL İNCE D., SAVCI S., SAĞLAM M., VARDAR YAĞLI N., ÇALIK E., ARIKAN H., et al.14. Fizyoterapide Gelişmeler Kongresi, Türkiye, 26 - 28 Nisan 2012, cilt.23, ss.56
  54. Üre döngüsü bozukluklarına ikincil neonatal hiperamonemik koma tedavisinde ammonul sodyum benzoat ve sodyum fenilasetat kullanımıÜNAL 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
  55. A novel mutation in DGUOK gene in a Turkish newbornKILIÇ 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)
  56. Mucopolysaccharidosis in a patyient with congenital glaucomaDURSUN A., gurbuz b. b., TATAR O., SİVRİ H. S., COŞKUN T.
  57. Oral health status in patients with mucopolysaccharidosesSERDAR EYMİRLİ P., BALLIKAYA E., AVCU N., UZAMIŞ TEKÇİÇEK M., SİVRİ H. S.

Kitaplar 2

  1. Nörotransmitter Bozukluklarında Klinik YaklaşımYıldız Y., Sivri H. S.Kalıtsal Metabolik Hastalıklarda Hareket Bozuklukları, Dursun, Ali, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.20-29, 2020
  2. 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

Kontakt

Phone
0312 305 11 41
Department
Metabolism, Kinderklinik
Languages
English

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