Diagnosis and management of glutaric aciduria type I – revised recommendations
Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Published in Journal of inherited metabolic disease (01.06.2011)
Published in Journal of inherited metabolic disease (01.06.2011)
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Journal Article
Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sarah J, Kyle, Jennifer, Peirce, Judy L, McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B, Macnamara, Ellen, Huang, Yan, Adams, David R, Toro, Camilo, Gahl, William A, Malicdan, May Christine V, Tifft, Cynthia J, Zink, Erika M, Bloodsworth, Kent J, Stratton, Kelly G, Koeller, David M, Metz, Thomas O, Washbourne, Philip, Westerfield, Monte
Published in PLoS genetics (01.10.2020)
Published in PLoS genetics (01.10.2020)
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Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice
Gao, Junwei, Chen, Juxing, De Domenico, Ivana, Koeller, David M., Harding, Cary O., Fleming, Robert E., Koeberl, Dwight D., Enns, Caroline A.
Published in Blood (22.04.2010)
Published in Blood (22.04.2010)
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Journal Article
Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I
Lagranha, Valeska Lizzi, Matte, Ursula, de Carvalho, Talita Giacomet, Seminotti, Bianca, Pereira, Carolina Coffi, Koeller, David M, Woontner, Michael, Goodman, Stephen I, de Souza, Diogo Onofre Gomes, Wajner, Moacir
Published in PloS one (04.03.2014)
Published in PloS one (04.03.2014)
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Journal Article
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sauer, Sven W, Okun, Jürgen G, Fricker, Gert, Mahringer, Anne, Müller, Ines, Crnic, Linda R, Mühlhausen, Chris, Hoffmann, Georg F, Hörster, Friederike, Goodman, Stephen I, Harding, Cary O, Koeller, David M, Kölker, Stefan
Published in Journal of neurochemistry (01.05.2006)
Published in Journal of neurochemistry (01.05.2006)
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Journal Article
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience
Kölker, Stefan, Boy, S.P. Nikolas, Heringer, Jana, Müller, Edith, Maier, Esther M., Ensenauer, Regina, Mühlhausen, Chris, Schlune, Andrea, Greenberg, Cheryl R., Koeller, David M., Hoffmann, Georg F., Haege, Gisela, Burgard, Peter
Published in Molecular genetics and metabolism (01.09.2012)
Published in Molecular genetics and metabolism (01.09.2012)
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Journal Article
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Kölker, Stefan, Koeller, David M., Okun, Jürgen G., Hoffmann, Georg F.
Published in Annals of neurology (01.01.2004)
Published in Annals of neurology (01.01.2004)
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Journal Article
Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
Zinnanti, William J, Lazovic, Jelena, Housman, Cathy, Antonetti, David A, Koeller, David M, Connor, James R, Steinman, Lawrence
Published in Acta neuropathologica communications (27.01.2014)
Published in Acta neuropathologica communications (27.01.2014)
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Journal Article
Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome
Gale, Michael J, Titus, Hope E, Harman, Gareth A, Alabduljalil, Talal, Dennis, Anna, Wilson, Jenny L, Koeller, David M, Finanger, Erika, Blasco, Peter A, Chiang, Pei-Wen, Karr, Daniel J, Yang, Paul
Published in American journal of ophthalmology case reports (01.06.2018)
Published in American journal of ophthalmology case reports (01.06.2018)
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Journal Article
Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants
Gessner, Bradford D., MD, Gillingham, Melanie B., PhD, Johnson, Monique A., PhD, Richards, C. Sue, PhD, Lambert, William E., PhD, Sesser, David, BA, Rien, Leanne C., RN, Hermerath, Cheryl A., MBA, Skeels, Michael R., PhD, Birch, Stephanie, MPH, Harding, Cary O., MD, Wood, Thalia, MPH, Koeller, David M., MD
Published in The Journal of pediatrics (2011)
Published in The Journal of pediatrics (2011)
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Journal Article
MDL1 is a High Copy Suppressor of ATM1: Evidence for a Role in Resistance to Oxidative Stress
Chloupková, Maja, LeBard, Linda S, Koeller, David M
Published in Journal of molecular biology (01.08.2003)
Published in Journal of molecular biology (01.08.2003)
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Journal Article
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan
Published in Journal of inherited metabolic disease (2017)
Published in Journal of inherited metabolic disease (2017)
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Journal Article
Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network
Webb-Robertson, Bobbie-Jo M, Stratton, Kelly G, Kyle, Jennifer E, Kim, Young-Mo, Bramer, Lisa M, Waters, Katrina M, Koeller, David M, Metz, Thomas O
Published in Analytical chemistry (Washington) (21.01.2020)
Published in Analytical chemistry (Washington) (21.01.2020)
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Journal Article
Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A
Gessner, Bradford D, Wood, Thalia, Johnson, Monique A, Richards, Carolyn Sue, Koeller, David M
Published in Genetics in medicine (01.09.2016)
Published in Genetics in medicine (01.09.2016)
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Journal Article
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development
Blanco-Sánchez, Bernardo, Clément, Aurélie, Stednitz, Sara J, Kyle, Jennifer, Peirce, Judy L, McFadden, Marcie, Wegner, Jeremy, Phillips, Jennifer B, Macnamara, Ellen, Huang, Yan, Adams, David R, Toro, Camilo, Gahl, William A, Malicdan, May Christine V, Tifft, Cynthia J, Zink, Erika M, Bloodsworth, Kent J, Stratton, Kelly G, Koeller, David M, Metz, Thomas O, Washbourne, Philip, Westerfield, Monte
Published in PLoS genetics (01.06.2020)
Published in PLoS genetics (01.06.2020)
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Journal Article
Health effects of the CPT1A P479L variant: responsible public health policy
Koeller, David M, Hirschfeld, Matt, Birch, Stephanie, Wood, Thalia, Morisse, Rebekah, Anckner, Sabra, Gessner, Bradford D
Published in Genetics in medicine (01.12.2017)
Published in Genetics in medicine (01.12.2017)
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Journal Article
Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I
Vendramin Pasquetti, Mayara, Meier, Letícia, Loureiro, Samanta, Ganzella, Marcelo, Junges, Bernardo, Barbieri Caus, Letícia, Umpierrez Amaral, Alexandre, Koeller, David M., Goodman, Stephen, Woontner, Michael, Gomes de Souza, Diogo Onofre, Wajner, Moacir, Calcagnotto, Maria Elisa
Published in Epilepsia (Copenhagen) (01.10.2017)
Published in Epilepsia (Copenhagen) (01.10.2017)
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