Diagnosis and management of glutaric aciduria type I – revised recommendations von 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

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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... von 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

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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegenerati... von 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

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An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1 von Goodman, Stephen I., Woontner, Michael

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Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies von Wajner, Moacir, Goodman, Stephen I

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Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry von Al-Dirbashi, Osama Y, Kölker, Stefan, Ng, Dione, Fisher, Lawrence, Rupar, Tony, Lepage, Nathalie, Rashed, Mohamed S, Santa, Tomofumi, Goodman, Stephen I, Geraghty, Michael T, Zschocke, Johannes, Christensen, Ernst, Hoffmann, Georg F, Chakraborty, Pranesh

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Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene von Goodman, Stephen I, Binard, Robert J, Woontner, Michael R, Frerman, Frank E

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Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1 von Bjugstad, Kimberly B., Goodman, Stephen I., Freed, Curt R.

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Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice von Olivera-Bravo, Silvia, Seminotti, Bianca, Isasi, Eugenia, Ribeiro, César A., Leipnitz, Guilhian, Woontner, Michael, Goodman, Stephen I., Souza, Diogo, Barbeito, Luis, Wajner, Moacir

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Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I von Olivera-Bravo, Silvia, Ribeiro, César A J, Isasi, Eugenia, Trías, Emiliano, Leipnitz, Guilhian, Díaz-Amarilla, Pablo, Woontner, Michael, Beck, Cheryl, Goodman, Stephen I, Souza, Diogo, Wajner, Moacir, Barbeito, Luis

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Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I von Zinnanti, William J, Lazovic, Jelena, Housman, Cathy, LaNoue, Kathryn, O'Callaghan, James P, Simpson, Ian, Woontner, Michael, Goodman, Stephen I, Connor, James R, Jacobs, Russell E, Cheng, Keith C

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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors von Schillaci, Lori-Anne P., Greene, Carol L., Strovel, Erin, Rispoli-Joines, Jessica, Spector, Elaine, Woontner, Michael, Scharer, Gunter, Enns, Gregory M., Gallagher, Renata, Zinn, Arthur B., McCandless, Shawn E., Hoppel, Charles L., Goodman, Stephen I., Bedoyan, Jirair K.

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A diet-induced mouse model for glutaric aciduria type I von Zinnanti, William J., Lazovic, Jelena, Wolpert, Ellen B., Antonetti, David A., Smith, Michael B., Connor, James R., Woontner, Michael, Goodman, Stephen I., Cheng, Keith C.

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Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A von Sauer, Sven W, Okun, Jürgen G, Schwab, Marina A, Crnic, Linda R, Hoffmann, Georg F, Goodman, Stephen I, Koeller, David M, Kölker, Stefan

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Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation von Seminotti, Bianca, Amaral, Alexandre Umpierrez, da Rosa, Mateus Struecker, Fernandes, Carolina Gonçalves, Leipnitz, Guilhian, Olivera-Bravo, Silvia, Barbeito, Luis, Ribeiro, César Augusto J., de Souza, Diogo Onofre Gomes, Woontner, Michael, Goodman, Stephen I., Koeller, David M., Wajner, Moacir

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Mitochondrial Disease in Superoxide Dismutase 2 Mutant Mice von Melov, Simon, Coskun, Pinar, Patel, Manisha, Tuinstra, Robbyn, Cottrell, Barbara, Jun, Albert S., Zastawny, Tomsz H., Dizdaroglu, Miral, Goodman, Stephen I., Huang, Ting-Ting, Miziorko, Henry, Epstein, Charles J., Wallace, Douglas C.

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Bioenergetics in Glutaryl-Coenzyme A Dehydrogenase Deficiency von Sauer, Sven W., Okun, Jürgen G., Schwab, Marina A., Crnic, Linda R., Hoffmann, Georg F., Goodman, Stephen I., Koeller, David M., Kölker, Stefan

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A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency von Arnold, Georgianne L., Koeberl, Dwight D., Matern, Dietrich, Barshop, Bruce, Braverman, Nancy, Burton, Barbara, Cederbaum, Stephen, Fiegenbaum, Annette, Garganta, Cheryl, Gibson, James, Goodman, Stephen I., Harding, Cary, Kahler, Stephen, Kronn, David, Longo, Nicola

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Ornithine deficiency in the arginase double knockout mouse von Deignan, Joshua L., Livesay, Justin C., Yoo, Paul K., Goodman, Stephen I., O’Brien, William E., Iyer, Ramaswamy K., Cederbaum, Stephen D., Grody, Wayne W.

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Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I von Magera, Mark J., Gunawardena, Nishantha D., Hahn, Si Houn, Tortorelli, Silvia, Mitchell, Grant A., Goodman, Stephen I., Rinaldo, Piero, Matern, Dietrich

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