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A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Among authors: goodman si. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630
Molybdenum cofactor deficiency.
Arnold GL, Greene CL, Stout JP, Goodman SI. Arnold GL, et al. Among authors: goodman si. J Pediatr. 1993 Oct;123(4):595-8. doi: 10.1016/s0022-3476(05)80961-8. J Pediatr. 1993. PMID: 8410516
Ornithine deficiency in the arginase double knockout mouse.
Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Among authors: goodman si. Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. doi: 10.1016/j.ymgme.2006.04.007. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16753325
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: goodman si. J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. J Inherit Metab Dis. 2007. PMID: 17203377
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. Schillaci LA, et al. Among authors: goodman si. Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1. Mol Genet Metab. 2016. PMID: 27397597
173 results