Search Results - Juliá-Palacios, Natalia

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  1. 1
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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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  2. 2
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    Clinical and molecular outcomes from the 5-Year natural history study of SSADH deficiency, a model metabolic neurodevelopmental disorder by Tokatly Latzer, Itay (Author) , Roullet, Jean-Baptiste (Author) , Afshar-Saber, Wardiya (Author) , Lee, Henry H. C. (Author) , Bertoldi, Mariarita (Author) , McGinty, Gabrielle E. (Author) , DiBacco, Melissa L. (Author) , Arning, Erland (Author) , Tsuboyama, Melissa (Author) , Rotenberg, Alexander (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Àngels (Author) , Julià-Palacios, Natalia (Author) , Gibson, K. Michael (Author) , Sahin, Mustafa (Author) , Pearl, Phillip L. (Author) ,


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  3. 3
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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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  4. 4
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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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  5. 5
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    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants by Tokatly Latzer, Itay (Author) , Roullet, Jean-Baptiste (Author) , Cesaro, Samuele (Author) , DiBacco, Melissa L. (Author) , Arning, Erland (Author) , Rotenberg, Alexander (Author) , Lee, Henry H. C. (Author) , Opladen, Thomas (Author) , Jeltsch, Kathrin (Author) , García-Cazorla, Àngels (Author) , Juliá-Palacios, Natalia (Author) , Gibson, K. Michael (Author) , Bertoldi, Mariarita (Author) , Pearl, Phillip L. (Author) ,


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  6. 6
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    Integrative approach to predict severity in nonketotic hyperglycinemia by Kuseyri Hübschmann, Oya (Author) , Juliá-Palacios, Natalia Alexandra (Author) , Olivella, Mireia (Author) , Guder, Philipp (Author) , Zafeiriou, Dimitrios I. (Author) , Horvath, Gabriela Ana (Author) , Kulhánek, Jan (Author) , Pearson, Toni S. (Author) , Kuster, Alice (Author) , Cortès-Saladelafont, Elisenda (Author) , Ibáñez, Salvador (Author) , García-Jiménez, Maria Concepción (Author) , Honzík, Tomáš (Author) , Santer, René (Author) , Jeltsch, Kathrin (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Opladen, Thomas (Author) , García-Cazorla, Ángeles (Author) ,


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  7. 7
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    U-IMD: the first Unified European registry for inherited metabolic diseases by Opladen, Thomas (Author) , Gleich, Florian (Author) , Kozich, Viktor (Author) , Scarpa, Maurizio (Author) , Martinelli, Diego (Author) , Schaefer, Franz (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , García-Cazorla, Ángels (Author) , Dionisi-Vici, Carlo (Author) , Kölker, Stefan (Author) ,


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  8. 8
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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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