Search Results - Pons, Roser

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  1. 1
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    Patients with Allan-Herndon-Dudley Syndrome (MCT8 deficiency) display symptoms of Parkinsonism in childhood and respond to Levodopa/Carbidopa treatment by Wilpert, Nina-Maria (Author) , Hewitt, Angela L. (Author) , Pons, Roser (Author) , Henke, Marie-Thérèse (Author) , Dell'Orco, Andrea (Author) , Bauer, Martin (Author) , Grolik, Christiane (Author) , Menz, Stephan (Author) , Wahle, Monika (Author) , Zink, Annika (Author) , Prigione, Alessandro (Author) , Reinauer, Christina (Author) , Lange, Catharina (Author) , Furth, Christian (Author) , Brockmann, Knut (Author) , Jung-Klawitter, Sabine (Author) , Christ, Stine (Author) , Kaindl, Angela M. (Author) , Tietze, Anna (Author) , Krude, Heiko (Author) , Opladen, Thomas (Author) , Schuelke, Markus (Author) ,


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  2. 2
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    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency by Julià-Palacios, Natalia (Author) , Kuseyri Hübschmann, Oya (Author) , Olivella, Mireia (Author) , Pons, Roser (Author) , Horvath, Gabriella (Author) , Lücke, Thomas (Author) , Fung, Cheuk-Wing (Author) , Wong, Suet-Na (Author) , Cortès-Saladelafont, Elisenda (Author) , Rovira-Remisa, M. Mar (Author) , Yıldız, Yılmaz (Author) , Mercimek-Andrews, Saadet (Author) , Assmann, Birgit (Author) , Stevanović, Galina (Author) , Manti, Filippo (Author) , Brennenstuhl, Heiko (Author) , Jung-Klawitter, Sabine (Author) , Jeltsch, Kathrin (Author) , Sivri, H. Serap (Author) , Garbade, Sven (Author) , García-Cazorla, Àngels (Author) , Opladen, Thomas (Author) ,


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  3. 3
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    Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism by Yıldız, Yılmaz (Author) , Kuseyri Hübschmann, Oya (Author) , Akgöz Karaosmanoğlu, Ayça (Author) , Manti, Filippo (Author) , Karaca, Meryem (Author) , Schwartz, Ida Vanessa (Author) , Pons, Roser (Author) , López-Laso, Eduardo (Author) , Palacios, Natalia Alexandra Julia (Author) , Porta, Francesco (Author) , Kavecan, Ivana (Author) , Balcı, Mehmet Cihan (Author) , Dy-Hollins, Marisela E. (Author) , Wong, Suet-Na (Author) , Oppebøen, Mari (Author) , Medeiros, Leonardo Simão (Author) , de Paula, Leila Cristina Pedroso (Author) , García-Cazorla, Angeles (Author) , Hoffmann, Georg F. (Author) , Jeltsch, Kathrin (Author) , Leuzzi, Vincenzo (Author) , Gökçay, Gülden (Author) , Hübschmann, Daniel (Author) , Harting, Inga (Author) , Özön, Z. Alev (Author) , Sivri, Serap (Author) , Opladen, Thomas (Author) ,


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  4. 4
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    Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up by Roubertie, Agathe (Author) , Opladen, Thomas (Author) , Brennenstuhl, Heiko (Author) , Kuseyri Hübschmann, Oya (Author) , Flint, Lisa (Author) , Willemsen, Michel A. (Author) , Leuzzi, Vincenzo (Author) , Cazorla, Angels Garcia (Author) , Kurian, Manju A. (Author) , François-Heude, Marie Céline (Author) , Hwu, Paul (Author) , Zeev, Bruria Ben (Author) , Kiening, Karl (Author) , Roujeau, Thomas (Author) , Pons, Roser (Author) , Pearson, Toni S. (Author) ,


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  5. 5
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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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  6. 6
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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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  7. 7
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    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by 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) , Hoffmann, Georg F. (Author) , Jeltsch, Kathrin (Author) , Hübschmann, Daniel (Author) , Garbade, Sven F. (Author) , Assmann, Birgit (Author) , Fung, Cheuk-Wing (Author) , Guder, Philipp (Author) , Hong, Stacey Tay Kiat (Author) , Karall, Daniela (Author) , Kato, Mitsuhiro (Author) , Kavecan, Ivana (Author) , Koht, Jeanette Aimee (Author) , Kuster, Alice (Author) , Lücke, Thomas (Author) , Manti, Filippo (Author) , Mir, Pablo (Author) , Mühlhausen, Chris (Author) , Önenli Mungan, Halise Neslihan (Author) , Palacios, Natalia Alexandra Julia (Author) , Ramos, Joaquín Alejandro Fernández (Author) , Steel, Dora (Author) , Stevanović, Galina (Author) , Sykut-Cegielska, Jolanta (Author) , Verbeek, Marcel M. (Author) , García-Cazorla, Angeles (Author) , Opladen, Thomas (Author) ,


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  8. 8
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    Brain MR patterns in inherited disorders of monoamine neurotransmitters: an analysis of 70 patients by 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) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Sivri, H. Serap (Author) , Leuzzi, Vincenzo (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Angeles (Author) , Opladen, Thomas (Author) , Harting, Inga (Author) ,


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  9. 9
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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 by 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) , Honzík, Tomáš (Author) , Kavecan, Ivana (Author) , Kurian, Manju A. (Author) , Leuzzi, Vincenzo (Author) , Lücke, Thomas (Author) , Manzoni, Francesca (Author) , Mastrangelo, Mario (Author) , Mercimek-Andrews, Saadet (Author) , Mir, Pablo (Author) , Oppebøen, Mari (Author) , Pearson, Toni S. (Author) , Sivri, H. Serap (Author) , Steel, Dora (Author) , Stevanović, Galina (Author) , Fung, Cheuk-Wing (Author) ,


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  10. 10
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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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  11. 11
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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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  12. 12
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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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  13. 13
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    AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients by Pearson, Toni S. (Author) , Gilbert, Laura (Author) , Opladen, Thomas (Author) , Garcia-Cazorla, Angeles (Author) , Mastrangelo, Mario (Author) , Leuzzi, Vincenzo (Author) , Tay, Stacy K. H. (Author) , Sykut-Cegielska, Jolanta (Author) , Pons, Roser (Author) , Mercimek-Andrews, Saadet (Author) , Kato, Mitsuhiro (Author) , Luecke, Thomas (Author) , Oppeboen, Mari (Author) , Kurian, Manju A. (Author) , Steel, Dora (Author) , Manti, Filippo (Author) , Meeks, Kathleen D. (Author) , Jeltsch, Kathrin (Author) , Flint, Lisa (Author) ,


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