Works by Yıldız, Yılmaz

Results: 56
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    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
    By:
    • Hübschmann, Oya Kuseyri;
    • Horvath, Gabriella;
    • Cortès-Saladelafont, Elisenda;
    • Yıldız, Yılmaz;
    • Mastrangelo, Mario;
    • Pons, Roser;
    • Friedman, Jennifer;
    • Mercimek-Andrews, Saadet;
    • Suet-Na Wong;
    • Pearson, Toni S.;
    • Zafeiriou, Dimitrios I.;
    • Kulhánek, Jan;
    • Kurian, Manju A.;
    • López-Laso, Eduardo;
    • Oppebøen, Mari;
    • Kılavuz, Sebile;
    • Wassenberg, Tessa;
    • Goez, Helly;
    • Scholl-Bürgi, Sabine;
    • Porta, Francesco
    Publication type:
    Article
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    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
    By:
    • Julia‐Palacios, Natalia Alexandra;
    • Kuseyri Hübschmann, Oya;
    • Olivella, Mireia;
    • Pons, Roser;
    • Horvath, Gabriella;
    • Lücke, Thomas;
    • Fung, Cheuk‐Wing;
    • Wong, Suet‐Na;
    • Cortès‐Saladelafont, Elisenda;
    • Rovira‐Remisa, M. Mar;
    • Yıldız, Yılmaz;
    • Mercimek‐Andrews, Saadet;
    • Assmann, Birgit;
    • Stevanović, Galina;
    • Manti, Filippo;
    • Brennenstuhl, Heiko;
    • Jung‐Klawitter, Sabine;
    • Jeltsch, Kathrin;
    • Sivri, H. Serap;
    • Garbade, Sven F.
    Publication type:
    Article
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    Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
    By:
    • Yıldız, Yılmaz;
    • Kuseyri Hübschmann, Oya;
    • Akgöz Karaosmanoğlu, Ayça;
    • Manti, Filippo;
    • Karaca, Meryem;
    • Schwartz, Ida Vanessa D.;
    • Pons, Roser;
    • López‐Laso, Eduardo;
    • Palacios, Natalia Alexandra Julia;
    • Porta, Francesco;
    • Kavecan, Ivana;
    • Balcı, Mehmet Cihan;
    • Dy‐Hollins, Marisela E.;
    • Wong, Suet‐Na;
    • Oppebøen, Mari;
    • Medeiros, Leonardo Simão;
    • de Paula, Leila Cristina Pedroso;
    • García‐Cazorla, Angeles;
    • Hoffmann, Georg F.;
    • Jeltsch, Kathrin
    Publication type:
    Article
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    Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 220, doi. 10.1002/jimd.12717
    By:
    • Aldrian, Denise;
    • Waldner, Birgit;
    • Vogel, Georg F.;
    • El‐Gharbawy, Areeg H.;
    • McKiernan, Patrick;
    • Vockley, Jerard;
    • Landau, Yuval E.;
    • Al Mutairi, Fuad;
    • Stepien, Karolina M.;
    • Kwok, Anne Mei‐Kwun;
    • Yıldız, Yılmaz;
    • Honzik, Tomas;
    • Kelifova, Silvie;
    • Ellaway, Carolyn;
    • Lund, Allan M.;
    • Mori, Mari;
    • Grünert, Sarah C.;
    • Scholl‐Bürgi, Sabine;
    • Zöggeler, Thomas;
    • Oberhuber, Rupert
    Publication type:
    Article
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    Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
    By:
    • Keller, Mareike;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Manti, Filippo;
    • Julia Palacios, Natalia Alexandra;
    • Friedman, Jennifer;
    • Yıldız, Yılmaz;
    • Koht, Jeanette Aimee;
    • Wong, Suet‐Na;
    • Zafeiriou, Dimitrios I.;
    • López‐Laso, Eduardo;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Jeltsch, Kathrin;
    • Serrano‐Lomelin, Jesus;
    • Garbade, Sven F.;
    • Opladen, Thomas;
    • Goez, Helly;
    • Burlina, Alberto;
    • Cortès‐Saladelafont, Elisenda
    Publication type:
    Article
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    COVID-19-related anxiety in phenylketonuria patients.

    Published in:
    Turkish Journal of Pediatrics, 2021, v. 63, n. 5, p. 790, doi. 10.24953/turkjped.2021.05.007
    By:
    • Akar, Halil Tuna;
    • Karaboncuk, Yamaç;
    • Çıkı, Kısmet;
    • Kahraman, Ayça Burcu;
    • Erdal, İzzet;
    • Coşkun, Turgay;
    • Tokatlı, Ayşegül;
    • Dursun, Ali;
    • Yıldız, Yılmaz;
    • Sivri, H. Serap
    Publication type:
    Article
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    Cognitive and behavioral impairment in mild hyperphenylalaninemia.

    Published in:
    Turkish Journal of Pediatrics, 2018, v. 60, n. 6, p. 617, doi. 10.24953/turkjped.2018.06.001
    By:
    • Evinç, S. Gülin;
    • Pektaş, Emine;
    • Foto-Özdemir, Dilşad;
    • Yıldız, Yılmaz;
    • Karaboncuk, Yamaç;
    • Bilginer-Gürbüz, Berrak;
    • Dursun, Ali;
    • Tokatlı, Ayşegül;
    • Coskun, Turgay;
    • Öktem, Ferhunde;
    • Sivri, H. Serap
    Publication type:
    Article
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    Oral health status in patients with mucopolysaccharidoses.

    Published in:
    Turkish Journal of Pediatrics, 2018, v. 60, n. 4, p. 400, doi. 10.24953/turkjped.2018.04.007
    By:
    • Ballıkaya, Elif;
    • Eymirli, Pınar Serdar;
    • Yıldız, Yılmaz;
    • Avcu, Nihal;
    • Sivri, Hatice Serap;
    • Uzamış-Tekçiçek, Meryem
    Publication type:
    Article
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    ÇOCUK ACİL POLİKLİNİĞİNE BAŞVURAN ORGANİK ASİDEMİ HASTALARININ ÖZELLİKLERİ İLE AKUT METABOLİK KRİZ TANISI İLE İLİŞKİLİ KLİNİK VE LABORATUVAR PARAMETRELERİNİN DEĞERLENDİRİLMESİ

    Published in:
    Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2018, v. 5, p. 227
    By:
    • Yıldız, Yılmaz;
    • Yıldız, Leman Akcan;
    • Pektaş, Emine;
    • Gürbüz, Berrak Bilginer;
    • Birbilen, Ahmet Ziya;
    • Hanalioğlu, Damla;
    • Dursun, Ali;
    • Tokatlı, Ayşegül;
    • Coşkun, Turgay;
    • Tekşam, Özlem;
    • Sivri, Hatice Serap
    Publication type:
    Article
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    A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 4, p. 452, doi. 10.4274/jcrpe.galenos.2020.2020.0065
    By:
    • Mısırlıgil, Mina;
    • Yıldız, Yılmaz;
    • Akın, Onur;
    • Güneş, Sevinç Odabaşı;
    • Arslan, Mutluay;
    • Ünay, Bülent
    Publication type:
    Article
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    Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 4, p. 399, doi. 10.1515/jpem-2024-0366
    By:
    • Akar, Halil Tuna;
    • Kahraman, Ayça Burcu;
    • Yıldız, Yılmaz;
    • Baran, Berat;
    • Çıkı, Kısmet;
    • Coşkun, Turgay;
    • Yücel Yılmaz, Didem;
    • Köksal Özgül, Rıza;
    • Hakan Aykan, Hayrettin;
    • Dursun, Ali;
    • Sivri, Serap;
    • Tokatlı, Ayşegül
    Publication type:
    Article
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