Search Results - Thony, Beat

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  1. 1
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    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  2. 2
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    Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  3. 3
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    Novel protein biomarkers of monoamine metabolism defects correlate with disease severity by Tristán-Noguero, Alba (Author) , Borràs, Eva (Author) , Molero-Luis, Marta (Author) , Wassenberg, Tessa (Author) , Peters, Tessa (Author) , Verbeek, Marcel M. (Author) , Willemsen, Michel (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , Pons, Roser (Author) , Thony, Beat (Author) , Horvath, Gabriella (Author) , Yapici, Zuhal (Author) , Friedman, Jennifer (Author) , Hyland, Keith (Author) , Agosta, Guillermo E. (Author) , López-Laso, Eduardo (Author) , Artuch, Rafael (Author) , Sabidó, Eduard (Author) , García-Cazorla, Àngels (Author) ,


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  4. 4
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    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  5. 5
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    Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas (Author) , López-Laso, Eduardo (Author) , Cortès-Saladelafont, Elisenda (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Yildiz, Yilmaz (Author) , Assmann, Birgit (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Heales, Simon (Author) , Pope, Simon (Author) , Porta, Francesco (Author) , García-Cazorla, Angeles (Author) , Honzík, Tomáš (Author) , Pons, Roser (Author) , Regal, Luc (Author) , Goez, Helly (Author) , Artuch, Rafael (Author) , Hoffmann, Georg F. (Author) , Horvath, Gabriella (Author) , Thöny, Beat (Author) , Scholl-Bürgi, Sabine (Author) , Burlina, Alberto (Author) , Verbeek, Marcel M. (Author) , Mastrangelo, Mario (Author) , Friedman, Jennifer (Author) , Wassenberg, Tessa (Author) , Jeltsch, Kathrin (Author) , Kulhánek, Jan (Author) , Kuseyri Hübschmann, Oya (Author) ,


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  6. 6
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    The genetic landscape and epidemiology of phenylketonuria by Hillert, Alicia (Author) , Thöny, Beat (Author) , Trefz, Friedrich K. (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Blau, Nenad (Author) ,


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  7. 7
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    Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Bertoldi, Mariarita (Author) , Carducci, Carla (Author) , Leuzzi, Vincenzo (Author) , Gemperle, Corinne (Author) , Berner, Todd (Author) , Hyland, Keith (Author) , Thöny, Beat (Author) , Hoffmann, Georg F. (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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  8. 8
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    Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability by Spronsen, F. J. van (Author) , Himmelreich, Nastassja (Author) , Rüfenacht, Véronique (Author) , Shen, Nan (Author) , Vliet, Danique van (Author) , Al-Owain, Mohammed (Author) , Ramzan, Khushnooda (Author) , Alkhalifi, Salwa M. (Author) , Lunsing, Roelineke J. (Author) , Heiner-Fokkema, Rebecca M. (Author) , Rassi, Anahita (Author) , Gemperle-Britschgi, Corinne (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Thöny, Beat (Author) ,


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  9. 9
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    Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico by Fernández-Lainez, Cynthia (Author) , Ibarra-González, Isabel (Author) , Alcántara-Ortigoza, Miguel Ángel (Author) , Fernández-Hernández, Liliana (Author) , Enríquez-Flores, Sergio (Author) , González-del Ángel, Ariadna (Author) , Blau, Nenad (Author) , Thöny, Beat (Author) , Guillén-López, Sara (Author) , Belmont-Martínez, Leticia (Author) , Ruiz-García, Matilde (Author) , Vela-Amieva, Marcela (Author) ,


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  10. 10
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    Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice by Korner, Germaine (Author) , Scherer, Tanja (Author) , Adamsen, Dea (Author) , Rebuffat, Alexander (Author) , Crabtree, Mark (Author) , Rassi, Anahita (Author) , Scavelli, Rossana (Author) , Homma, Daigo (Author) , Ledermann, Birgit (Author) , Konrad, Daniel (Author) , Ichinose, Hiroshi (Author) , Wolfrum, Christian (Author) , Horsch, Marion (Author) , Rathkolb, Birgit (Author) , Klingenspor, Martin (Author) , Beckers, Johannes (Author) , Wolf, Eckhard (Author) , Gailus‐Durner, Valérie (Author) , Fuchs, Helmut (Author) , Hrabě de Angelis, Martin (Author) , Blau, Nenad (Author) , Rozman, Jan (Author) , Thöny, Beat (Author) ,


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