Showing 1 - 14 results of 14 for search 'Serap Sivri', query time: 0.02s Refine Results
  1. 1
    A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis

    A Fanconi-Bickel syndrome patient with a novel mutation and accompanying situs inversus totalis by Tuğba Taştemel-Öztürk, Berrak Bilginer-Gürbüz, Özlem Tekşam, Serap Sivri

    Published 2017-12-01
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  2. 2
    Gyrate atrophy of the choroid and retina: a case report

    Gyrate atrophy of the choroid and retina: a case report by Nesrin Büyüktortop, Mehmet Numan Alp, Serap Sivri, Turgay Coşkun, Gülcan Kural

    Published 2011-02-01
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  3. 3
    Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

    Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder by Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri

    Published 2016-02-01
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  4. 4
    Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434]

    Erratum to `Recommendations on phenylketonuria in Turkey` [Turk J Pediatr 2022; 64: 413-434] by Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri

    Published 2022-12-01
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  5. 5
    A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings

    A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings by Esra Kılıç, Mustafa Kılıç, G Eda Ütine, Serap Sivri, Turgay Coskun, Yasemin Alanay

    Published 2014-08-01
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  6. 6
    Recommendations on phenylketonuria in Turkey

    Recommendations on phenylketonuria in Turkey by Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri

    Published 2022-06-01
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  7. 7
    When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center

    When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center by Göknur Haliloğlu, Emine Vezir, Leyla Baydar, Saniye Onol, Serap Sivri, Turgay Coşkun, Meral Topçu

    Published 2012-02-01
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  8. 8
    Oral health status in patients with mucopolysaccharidoses

    Oral health status in patients with mucopolysaccharidoses by Elif Ballıkaya, Pınar Serdar Eymirli, Yılmaz Yıldız, Nihal Avcu, Hatice Serap Sivri, Meryem Uzamış-Tekçiçek

    Published 2018-08-01
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  9. 9
    Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

    Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria by Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

    Published 2025-05-01
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  10. 10
    Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

    Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation by Özlem Ünal, R Köksal Özgül, Didem Yücel, Dilek Yalnızoğlu, Ayşegül Tokatlı, H Serap Sivri, Burcu Hişmi, Turgay Coşkun, Ali Dursun

    Published 2015-08-01
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  11. 11
    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

    Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant by Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, Can Koşukcu, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

    Published 2021-08-01
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  12. 12
    Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

    Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four by Özlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri

    Published 2015-06-01
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  13. 13
    A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome

    A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome by Mustafa Kiliç, Haluk Topaloğlu, Sule Yiğit, Zuhal Akçören, Sara Seneca, Linda De Meirleir, Ayşegül Tokatli, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun

    Published 2011-02-01
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  14. 14
    A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics

    A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics by Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp

    Published 2025-08-01
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