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  1. Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients

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    July 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082

  2. Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

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    November 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502

  3. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

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    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  5. Coşkun, Turgay; Çoker, Mahmut; Mungan, Neslihan Önenli; Özel, Hülya Gökmen; Sivri, H Serap

    Recommendations on phenylketonuria in Turkey

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    Hacettepe University Institute of Child Health, 2022

    Published in: The Turkish Journal of Pediatrics

  13. Çıkı, Kısmet; Yıldız, Yılmaz; Yücel Yılmaz, Didem; Pektaş, Emine; Tokatlı, Ayşegül; Özgül, R. Köksal; Sivri, H. Serap; Dursun, Ali

    Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

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    Springer Science and Business Media LLC, 2021

    Published in: Metabolic Brain Disease

  15. Gönüldaş, Burhanettin; Yılmaz, Taner; Sivri, H. Serap; Güçer, K. Şafak; Kılınç, Kamer; Genç, G. Aydan; Kılıç, Mustafa; Coşkun, Turgay

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

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    Elsevier BV, 2014

    Published in: International Journal of Pediatric Otorhinolaryngology

  17. Akar, Halil Tuna; Yıldız, Yılmaz; Dursun, Ali; Tokatlı, Ayşegül; Coşkun, Turgay; Erdal, İzzet; Kahraman, Ayça Burcu; Çıkı, Kısmet; Karaboncuk, Yamaç; Sivri, H Serap

    COVID-19-related anxiety in phenylketonuria patients

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    Hacettepe University Institute of Child Health, 2021

    Published in: The Turkish Journal of Pediatrics

  18. Evinç, S Gülin; Öktem, Ferhunde; Coskun, Turgay; Tokatlı, Ayşegül; Dursun, Ali; Bilginer-Gürbüz, Berrak; Karaboncuk, Yamaç; Yıldız, Yılmaz; Foto-Özdemir, Dilşad; Pektaş, Emine; Sivri, H Serap

    Cognitive and behavioral impairment in mild hyperphenylalaninemia

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    Hacettepe University Institute of Child Health, 2018

    Published in: The Turkish Journal of Pediatrics

  20. Ostergaard, Elsebet; Duno, Morten; Møller, Lisbeth Birk; Kalkanoglu-Sivri, H. Serap; Dursun, Ali; Aliefendioglu, Didem; Leth, Helle; Dahl, Marianne; Christensen, Ernst; Wibrand, Flemming

    JIMD Reports: Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

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    Springer Berlin Heidelberg, 2012

    Published in: JIMD Reports