Prof. Dr. SERAP SİVRİ

Yayın Ağı

Makaleler 63

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

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

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

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

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

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

3. 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)

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)

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)

6. Meta-analysis of bone mineral density in adults with phenylketonuria

Rocha 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)

7. Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Whitehall 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)

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)

9. 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)

10. The struggle that is phenylketonuria: What do the patients and caregivers suffer from

DEMİREL D., SİVRİ S.

MEDICINE , cilt.103, sa.25, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

11. 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)

12. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Rocha 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)

13. Efficacy of Tele-CO-OP in Children With Organic Acidemia: A Pilot Randomized Controlled Trial

Dursun E. L., BUMİN G., ÇIKI K., SİVRİ S.

OTJR Occupation, Participation and Health , sa.3, ss.417-425, 2023 (SSCI, Scopus)

14. 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)

15. 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)

16. 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)

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

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

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

18. 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)

19. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Burton 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)

20. 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)

21. Recommendations on phenylketonuria in Turkey

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

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

22. A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials

Burton 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)

23. 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)

24. 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 trial

Muntau 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)

25. 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)

26. 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)

27. 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)

28. Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII

SİVRİ H. S., ERDÖL Ş.

MOLECULAR GENETICS AND METABOLISM , cilt.132, sa.2, 2021 (SCI-Expanded, Scopus)

29. Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis

YİĞİT 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)

30. 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)

31. 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

32. 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)

33. 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)

34. 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)

35. 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)

36. 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)

37. 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)

38. 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)

39. 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)

40. 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)

41. 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)

42. 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)

43. Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI

Bulut 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)

44. 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)

45. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients < 4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

Muntau 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)

46. 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)

47. 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)

48. Mukopolisakkaridozlarda ortopedik sorunlar

YILDIZ Y., SİVRİ H. S.

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

49. 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)

50. 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)

51. 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)

52. 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 Trial

FERLA 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)

53. 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)

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

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

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

55. 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)

56. Rizomelik kondrodisplazi punktata: Bir vaka takdimi

ZENGİN 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)

57. 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)

58. 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)

59. 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)

60. 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)

61. 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)

62. 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)

63. 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)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 57

1. Lizinürik Protein İntoleransının Nadir Renal Tutulumu: Membranoproliferatif Glomerülonefrit

BALTU 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 Phenylketonuria

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

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

3. Fenilketonüri ile Yaşamak: Anne Ve Babaların Penceresinden

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

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

4. 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)

5. THE BURDEN OF ILLNESS IN ADULTS WITH PHENYLKETONURIA (PKU): INTERIM ANALYSIS OF A CROSS-SECTIONAL STUDY CONDUCTED IN NORTH AMERICA AND EUROPE

Burton 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. 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)

7. Mukopolisakkaridozlu (MPS) Çocuklarda Otomatik ve İstemli Motor Kontrol Performanslarının İncelenmesi:Pilot Çalışma

YİĞİT Ö., AKSOY S., SİVRİ H. S.

13.Uluslararası Kulak Burun Boğaz ve Baş Boyun Cerrahisi Kongresi, 5 - 07 Nisan 2018, ss.52, (Özet Bildiri)

8. Presenting signs and symptoms of MPS: Results of an international physician survey

Mitchell 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)

9. Presenting signs and symptoms of MPS: Results of a systematic literature analysis

Mitchell 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)

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

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

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

11. A rare cause of cutaneous ulceration: Prolidase deficiency

ISAZADE 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. 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)

13. 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)

14. 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)

15. 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)

16. 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)

17. 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)

18. 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)

19. 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)

20. 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)

21. 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)

22. 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)

23. 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)

24. 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)

25. 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)

26. 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)

27. 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)

28. 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)

29. 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)

30. 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)

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

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

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

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

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

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

33. 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)

34. 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)

35. 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)

36. 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)

37. 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)

38. argininosüccinic acidüria associated with pancreatitis

DURSUN A., SİVRİ H. S., AKÇÖREN Z., TOKATLI A., COŞKUN T.

SSIEM, 6 - 09 Eylül 2016, (Özet Bildiri)

39. 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)

40. 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)

41. Oral health status in patients with mucopolysaccharidoses

SERDAR EYMİRLİ P., BALLIKAYA E., AVCU N., UZAMIŞ TEKÇİÇEK M., SİVRİ H. S.

13. CONGRESS OF THE EUROPEAN ACADEMY OF PAEDIATRICDENTISTRY, Belgrade, Sırbistan, 2 - 05 Haziran 2016, (Özet Bildiri)

42. Mukopolisakkaridozlu hastaların solunum kas kuvveti ve egzersiz kapasitelerinin değerlendirilmesi

BOZDEMİR 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)

43. 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

44. 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

45. 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

46. 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

47. 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

48. 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

49. Prevalence of Anti-AAV8 Neutralizing Antibodies and ARSB Cross-Reactive Immunologic Material in MPS VI Patients Candidates for a Gene Therapy Trial

Ferla 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)