検索結果 - David M. Koeller
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Evidence that the pathway of transferrin receptor mRNA degradation involves an endonucleolytic cleavage within the 3′ UTR and does not involve poly(A) tail shortening. 著者: Roberta Binder, Jill Horowitz, James P. Basilion, David M. Koeller, Richard D. Klausner, Joe B. Harford
出版事項 1994Artigo -
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Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice 著者: 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
出版事項 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... 著者: 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
出版事項 2014Artigo -
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Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I 著者: 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
出版事項 2017Artigo -
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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide 著者: 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
出版事項 2015Artigo -
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CSF and Blood Levels of GFAP in Alexander Disease 著者: 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
出版事項 2015Artigo -
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Guideline for the diagnosis and management of glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I) 著者: 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
出版事項 2007Artigo -
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Diagnosis and management of glutaric aciduria type I – revised recommendations 著者: 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
出版事項 2011Revisão
関連主題
Biology
Medicine
Gene
Internal medicine
Biochemistry
Genetics
Chemistry
Disease
Endocrinology
Neuroscience
Pathology
Glutaric acid
Molecular biology
Messenger RNA
Cell biology
Pediatrics
Bioinformatics
Carnitine
Computer science
Dopamine
Dystonia
Ferritin
Metabolism
Newborn screening
Phenotype
Psychiatry
RNA
Receptor
Striatum
Transferrin