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Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: goodman si. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
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 SW, Okun JG, Fricker G, Mahringer A, Müller I, Crnic LR, Mühlhausen C, Hoffmann GF, Hörster F, Goodman SI, Harding CO, Koeller DM, Kölker S. Sauer SW, et al. Among authors: goodman si. J Neurochem. 2006 May;97(3):899-910. doi: 10.1111/j.1471-4159.2006.03813.x. Epub 2006 Mar 29. J Neurochem. 2006. PMID: 16573641 Free article.
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P. Al-Dirbashi OY, et al. Among authors: goodman si. J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978942
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
Diagnosis and management of glutaric aciduria type I.
Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Barić I, et al. Among authors: goodman si. J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171. J Inherit Metab Dis. 1998. PMID: 9700590 Review.
Animal models for glutaryl-CoA dehydrogenase deficiency.
Koeller DM, Sauer S, Wajner M, de Mello CF, Goodman SI, Woontner M, Mühlhausen C, Okun JG, Kölker S. Koeller DM, et al. Among authors: goodman si. J Inherit Metab Dis. 2004;27(6):813-8. doi: 10.1023/B:BOLI.0000045763.52907.5e. J Inherit Metab Dis. 2004. PMID: 15505386
Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer SW, Muschol N, Herdering W, Thiem J, Goodman SI, Koeller DM, Ullrich K, Braulke T, Mühlhausen C. Keyser B, et al. Among authors: goodman si. Biochim Biophys Acta. 2008 Jun;1782(6):385-90. doi: 10.1016/j.bbadis.2008.02.008. Epub 2008 Feb 29. Biochim Biophys Acta. 2008. PMID: 18348873 Free article.
179 results