检索结果 - David M. Koeller
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Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice 由 Estela Natacha Brandt Busanello, Letícia Ferreira Pettenuzzo, Paulo Henrique S. Botton, Pablo Pandolfo, Diogo O. Souza, Michael Woontner, Stephen I. Goodman, David M. Koeller, Moacır Wajner
出版 2012Artigo -
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Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of Gcdh-/- Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Type... 由 Valeska Lizzi Lagranha, Úrsula da Silveira Matte, Talita Giacomet de Carvalho, Bianca Seminotti, Carolina Coffi Pereira, David M. Koeller, Michael Woontner, Stephen I. Goodman, Diogo O. Souza, Moacır Wajner
出版 2014Artigo -
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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I 由 Mayara Vendramin Pasquetti, Letícia Pereira, Samanta Oliveira Loureiro, Marcelo Ganzella, Bernardo Junges, Letícia Barbieri Caus, Alexandre Umpierrez Amaral, David M. Koeller, Stephen I. Goodman, Michael Woontner, Diogo O. Souza, Moacır Wajner, María Elisa Calcagnotto
出版 2017Artigo -
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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide 由 Sylvia Stöckler‐Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne D. DeBrosse, Kimberley Dessoffy, Simon Edvardson, Florian Eichler, Katherine Johnston, David M. Koeller, Sonia Nouioua, Mériem Tazir, Ashok Verma, Monica D. Dowling, Klaas J. Wierenga, Andrea M. Wierenga, Victor Wei Zhang, Lee-Jun Wong
出版 2015Artigo -
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CSF and Blood Levels of GFAP in Alexander Disease 由 Paige L. Jany, Guillermo Agosta, William Benko, Jens C. Eickhoff, Stephanie Keller, Wolfgang Köehler, David M. Koeller, Soe Mar, Sakkubai Naidu, Jayne Ness, Davide Pareyson, Deborah L. Renaud, Ettore Salsano, Raphael Schiffmann, Julie Simon, Adeline Vanderver, Florian Eichler, Marjo S. van der Knaap, Albee Messing
出版 2015Artigo -
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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) 由 S. Kölker, E. Christensen, James V. Leonard, Cheryl R. Greenberg, Alberto Burlina, Alessandro P. Burlina, Marjorie Dixon, M. Durán, Stephen I. Goodman, David M. Koeller, Edith Müller, E. R. Naughten, Eva Neumaier‐Probst, Jürgen G. Okun, Mårten Kyllerman, R. Surtees, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard
出版 2007Artigo -
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Diagnosis and management of glutaric aciduria type I – revised recommendations 由 Stefan Kölker, Ernst Christensen, James V. Leonard, Cheryl R. Greenberg, Avihu Boneh, Alberto Burlina, Alessandro P. Burlina, Marjorie Dixon, Marinus Durán, Àngels García Cazorla, Stephen I. Goodman, David M. Koeller, Mårten Kyllerman, Chris Mühlhausen, Edith Müller, Jürgen G. Okun, Bridget Wilcken, Georg F. Hoffmann, Peter Burgard
出版 2011Revisão
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