Search Results - García‐Cazorla, Angels

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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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    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders by Alfonsi, Chiara (Author) , Stephan-Otto, Christian (Author) , Cortès-Saladelafont, Elisenda (Author) , Palacios, Natalia Juliá (Author) , Podzamczer-Valls, Inés (Author) , Cruz, Nuria Gutiérrez (Author) , Jiménez, María Rosario Domingo (Author) , Micó, Salvador Ibáñez (Author) , Vila, Miguel Tomás (Author) , Jeltsch, Kathrin (Author) , Kuseyri Hübschmann, Oya (Author) , Opladen, Thomas (Author) , Fragua, Ramón Velázquez (Author) , Gómez, Teresa (Author) , Fortuny, Oscar Alcoverro (Author) , Jiménez, Inmaculada García (Author) , Laso, Eduardo López (Author) , Martínez, Ana Roche (Author) , López, Jordi Muchart (Author) , Garcia-Cazorla, Àngels (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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    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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  9. 9
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    Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform by Klinke, Glynis (Author) , Richter, Sylvia (Author) , Monostori, Péter (Author) , Schmidt‐Mader, Brigitte (Author) , García‐Cazorla, Angels (Author) , Artuch, Rafael (Author) , Christ, Stine (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Okun, Jürgen G. (Author) ,


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  10. 10
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    Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders by Jamiolkowski, Dagmar (Author) , Kölker, Stefan (Author) , Glahn, Esther M. (Author) , Barić, Ivo (Author) , Zeman, Jiri (Author) , Baumgartner, Matthias R. (Author) , Mühlhausen, Chris (Author) , Garcia‐Cazorla, Angels (Author) , Gleich, Florian (Author) , Haege, Gisela (Author) , Burgard, Peter (Author) ,


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