Prof. SERAP SİVRİ

SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324

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, United States Of America, 6 - 09 April 2019, vol.126, pp.293

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 September 2018 - 07 September 2017, vol.41, pp.37-219

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 April 2018, pp.52

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, United States Of America, 5 - 09 February 2018, vol.123

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, United States Of America, 5 - 09 February 2018, vol.123

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, United States Of America, 30 July - 03 August 2017, vol.63

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 September 2017

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 September 2017

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, Brazil, 5 - 08 September 2017, vol.5

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 September 2017

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, Brazil, 5 - 08 September 2017, vol.5

Three-year experience of pediatric physicians with adult inpatient consultations

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

13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brazil, 5 September - 08 May 2017

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 September 2017, vol.5

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, Turkey, 26 - 30 April 2017

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, Turkey, 26 - 30 April 2017

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, Turkey, 26 - 30 April 2017

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, Turkey, 26 - 30 April 2017, pp.148

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, Turkey, 26 - 30 April 2017, pp.151

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, Turkey, 26 - 30 April 2017, pp.152

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, Turkey, 26 - 30 April 2017, pp.149

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, Turkey, 26 - 30 April 2017, pp.150

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 October 2016

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 October 2016

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 October 2016

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 October 2016

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 September 2016

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 September 2016

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 September 2016

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 September 2016

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 September 2016

argininosüccinic acidüria associated with pancreatitis

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

SSIEM, 6 - 09 September 2016

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 September - 09 June 2016

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 September 2016

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 September 2016

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, Serbia, 2 - 05 June 2016

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 September 2015

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 September 2015

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 September 2015

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 September 2015

Coexistence of phenylketonuria and primary adrenal insufficiency

COŞKUN T., PEKTAŞ E., GG b., DURSUN A., SİVRİ H. S., TOKATLI A.

SSIEM, 4 - 07 September 2015

Two Cases with Mucopolysaccharidosis Type VII Sly s Syndrome

SİVRİ H. S., PEKTAŞ E., DURSUN A., TOKATLI A., COŞKUN T.

SSIEM, 4 - 07 September 2015

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, United States Of America, 13 - 16 May 2015, vol.23

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, United States Of America, 9 - 13 February 2015, vol.114

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

YİĞİT Ö., ÜNAL Ö., GENÇ G. A., HİŞMİ B., DURSUN A., TOKATLI A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE, 20 October 2012, vol.35, pp.145

Books & Book Chapters

Nörotransmitter Bozukluklarında Klinik Yaklaşım

Yıldız Y., Sivri H. S.

in: Kalıtsal Metabolik Hastalıklarda Hareket Bozuklukları, Dursun,Ali, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.20-29, 2020

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.

in: JIMD Reports Case and Research Reports 2011 3, , Editor, SPRINGER, 2011

Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Books & Book Chapters