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  1. Opladen, Thomas; López-Laso, Eduardo; Cortès-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; García-Cazorla, Angeles; Honzík, Tomáš; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thöny, Beat; Scholl-Bürgi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; [...]

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

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    Springer Science and Business Media LLC, 2020

    Published in: Orphanet Journal of Rare Diseases

  2. Opladen, Thomas; López-Laso, Eduardo; Cortès-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; García-Cazorla, Angeles; Honzík, Tomáš; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thöny, Beat; Scholl-Bürgi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; [...]

    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

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    Springer Science and Business Media LLC, 2020

    Published in: Orphanet Journal of Rare Diseases

  3. 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; Fernández Ramos, Joaquín Alejandro; García‐Cazorla, Angeles; Hoffmann, Georg F.; Kiat Hong, Stacey Tay; [...]

    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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    Wiley, 2021

    Published in: Journal of Inherited Metabolic Disease

  4. Kuseyri Hübschmann, Oya; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; 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; Honzík, Tomáš; Santer, René; Burlina, Alberto; Sivri, H. Serap; [...]

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

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications