Works matching AU Ucar, Sema Kalkan

Results: 70
    1

    The effect of triheptanoin treatment on clinical and laboratory outcomes in patients with long-chain fatty acid oxidation disorder.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 6, p. 1, doi. 10.1007/s00431-025-06216-3
    By:
    • Köse, Engin;
    • İnci, Aslı;
    • Yazıcı, Havva;
    • Zübarioğlu, Tanyel;
    • Kılavuz, Sebile;
    • Çıkı, Kısmet;
    • Er, Esra;
    • Balcı, Mehmet Cihan;
    • Kahraman, Ayça Burcu;
    • Önenli Mungan, Neslihan;
    • Aktuğlu Zeybek, Çiğdem;
    • Kalkan Uçar, Sema;
    • Tümer, Leyla;
    • Eminoğlu, Fatma Tuba
    Publication type:
    Article
    2

    Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096
    By:
    • Bax, Bridget E.;
    • Levene, Michelle;
    • Bain, Murray D.;
    • Fairbanks, Lynette D.;
    • Filosto, Massimiliano;
    • Kalkan Uçar, Sema;
    • Klopstock, Thomas;
    • Kornblum, Cornelia;
    • Mandel, Hanna;
    • Rahman, Shamima;
    • Roubertie, Agathe;
    • Scarpelli, Mauro;
    • Sedgwick, Philip M.;
    • Baru, Moshe;
    • Sellos-Moura, Marcia;
    • Price, Jeanie;
    • Horn, Patrick;
    • Nirmalananthan, Niranjanan
    Publication type:
    Article
    3

    Editörden.

    Published in:
    Journal of Pediatric Research, 2016, v. 3, n. 2, p. A-XII
    By:
    • Uçar, Sema Kalkan
    Publication type:
    Article
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    Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.

    Published in:
    BMC Medicine, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12916-022-02296-2
    By:
    • Gautheron, Jérémie;
    • Lima, Lara;
    • Akinci, Baris;
    • Zammouri, Jamila;
    • Auclair, Martine;
    • Ucar, Sema Kalkan;
    • Ozen, Samim;
    • Altay, Canan;
    • Bax, Bridget E.;
    • Nemazanyy, Ivan;
    • Lenoir, Véronique;
    • Prip-Buus, Carina;
    • Acquaviva-Bourdain, Cécile;
    • Lascols, Olivier;
    • Fève, Bruno;
    • Vigouroux, Corinne;
    • Noel, Esther;
    • Jéru, Isabelle
    Publication type:
    Article
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    Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

    Published in:
    2017
    By:
    • Maas, Roeltje R.;
    • Iwanicka‐Pronicka, Katarzyna;
    • Kalkan Ucar, Sema;
    • Alhaddad, Bader;
    • AlSayed, Moeenaldeen;
    • Al‐Owain, Mohammed A.;
    • Al‐Zaidan, Hamad I.;
    • Balasubramaniam, Shanti;
    • Barić, Ivo;
    • Bubshait, Dalal K.;
    • Burlina, Alberto;
    • Christodoulou, John;
    • Chung, Wendy K.;
    • Colombo, Roberto;
    • Darin, Niklas;
    • Freisinger, Peter;
    • Garcia Silva, Maria Teresa;
    • Grunewald, Stephanie;
    • Haack, Tobias B.;
    • van Hasselt, Peter M.
    Publication type:
    journal article
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    Editorial.

    Published in:
    Journal of Pediatric Research, 2017, v. 4, n. 4, p. A-XII
    By:
    • Uçar, Sema Kalkan
    Publication type:
    Article
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    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

    Published in:
    2016
    By:
    • Valayannopoulos, Vassili;
    • Baruteau, Julien;
    • Bueno Delgado, Maria;
    • Cano, Aline;
    • Couce, Maria L.;
    • Del Toro, Mireia;
    • Donati, Maria Alice;
    • Garcia-Cazorla, Angeles;
    • Gil-Ortega, David;
    • Gomez-de Quero, Pedro;
    • Guffon, Nathalie;
    • Hofstede, Floris C.;
    • Kalkan-Ucar, Sema;
    • Coker, Mahmut;
    • Lama-More, Rosa;
    • Martinez-Pardo Casanova, Mercedes;
    • Molina, Agustin;
    • Pichard, Samia;
    • Papadia, Francesco;
    • Rosello, Patricia
    Publication type:
    journal article
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    Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 5, p. 1001, doi. 10.1002/jimd.12741
    By:
    • Kalkan Uçar, Sema;
    • Altınok, Yasemin Atik;
    • Mansuroglu, Yelda;
    • Canda, Ebru;
    • Yazıcı, Havva;
    • Çelik, Merve Yoldaş;
    • Erdem, Fehime;
    • Yanbolu, Ayşe Yüksel;
    • Ülger, Zülal;
    • Çoker, Mahmut
    Publication type:
    Article
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    Tetrahydrobiopterin deficiencies: Lesson from clinical experience.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 59, n. 1, p. 42, doi. 10.1002/jmd2.12199
    By:
    • Bozaci, Ayse Ergul;
    • Er, Esra;
    • Yazici, Havva;
    • Canda, Ebru;
    • Kalkan Uçar, Sema;
    • Güvenc Saka, Merve;
    • Eraslan, Cenk;
    • Onay, Hüseyin;
    • Habif, Sara;
    • Thöny, Beat;
    • Coker, Mahmut
    Publication type:
    Article
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    Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

    Published in:
    European Journal of Pediatrics, 2025, v. 184, n. 1, p. 1, doi. 10.1007/s00431-024-05907-7
    By:
    • Yoldas Celik, Merve;
    • Canda, Ebru;
    • Yazici, Havva;
    • Erdem, Fehime;
    • Yuksel Yanbolu, Ayse;
    • Atik Altınok, Yasemin;
    • Eraslan, Cenk;
    • Aykut, Ayca;
    • Durmaz, Asude;
    • Habif, Sara;
    • Kalkan Ucar, Sema;
    • Coker, Mahmut
    Publication type:
    Article
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    Erişkin kalp hastalarında atlanan bir tanı: Fabry hastalığı.

    Published in:
    Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2017, v. 45, n. 6, p. 549, doi. 10.5543/tkda.2017.68709
    By:
    • Kayıkçıoğlu, Meral;
    • Şimşek, Evrim;
    • Uçar, Sema Kalkan;
    • Bayraktaroğlu, Selen;
    • Onay, Hüseyin;
    • Sözmen, Eser;
    • Çoker, Mahmut
    Publication type:
    Article
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