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Items: 1 to 50 of 168

1.

Emergent high fatality lung disease in systemic juvenile arthritis.

Saper VE, Chen G, Deutsch GH, Guillerman RP, Birgmeier J, Jagadeesh K, Canna S, Schulert G, Deterding R, Xu J, Leung AN, Bouzoubaa L, Abulaban K, Baszis K, Behrens EM, Birmingham J, Casey A, Cidon M, Cron RQ, De A, De Benedetti F, Ferguson I, Fishman MP, Goodman SI, Graham TB, Grom AA, Haines K, Hazen M, Henderson LA, Ho A, Ibarra M, Inman CJ, Jerath R, Khawaja K, Kingsbury DJ, Klein-Gitelman M, Lai K, Lapidus S, Lin C, Lin J, Liptzin DR, Milojevic D, Mombourquette J, Onel K, Ozen S, Perez M, Phillippi K, Prahalad S, Radhakrishna S, Reinhardt A, Riskalla M, Rosenwasser N, Roth J, Schneider R, Schonenberg-Meinema D, Shenoi S, Smith JA, Sönmez HE, Stoll ML, Towe C, Vargas SO, Vehe RK, Young LR, Yang J, Desai T, Balise R, Lu Y, Tian L, Bejerano G, Davis MM, Khatri P, Mellins ED; Childhood Arthritis and Rheumatology Research Alliance Registry Investigators.

Ann Rheum Dis. 2019 Dec;78(12):1722-1731. doi: 10.1136/annrheumdis-2019-216040. Epub 2019 Sep 27.

PMID:
31562126
2.

An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1.

Goodman SI, Woontner M.

Mol Genet Metab. 2019 Aug;127(4):325-326. doi: 10.1016/j.ymgme.2019.07.005. Epub 2019 Jul 11. No abstract available.

PMID:
31324527
3.

Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Olivera-Bravo S, Seminotti B, Isasi E, Ribeiro CA, Leipnitz G, Woontner M, Goodman SI, Souza D, Barbeito L, Wajner M.

Mol Neurobiol. 2019 Jan;56(1):648-657. doi: 10.1007/s12035-018-1077-x. Epub 2018 May 19.

PMID:
29779173
4.

Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I.

Rodrigues MDN, Seminotti B, Zanatta Â, de Mello Gonçalves A, Bellaver B, Amaral AU, Quincozes-Santos A, Goodman SI, Woontner M, Souza DO, Wajner M.

Mol Neurobiol. 2017 Aug;54(6):4795-4805. doi: 10.1007/s12035-016-0023-z. Epub 2016 Aug 10.

PMID:
27510504
5.

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.

Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1.

PMID:
27397597
6.

Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.

Rodrigues MD, Seminotti B, Amaral AU, Leipnitz G, Goodman SI, Woontner M, de Souza DO, Wajner M.

J Neurol Sci. 2015 Dec 15;359(1-2):133-40. doi: 10.1016/j.jns.2015.10.043. Epub 2015 Oct 28.

PMID:
26671102
7.

Striatal neuronal death mediated by astrocytes from the Gcdh-/- mouse model of glutaric acidemia type I.

Olivera-Bravo S, Ribeiro CA, Isasi E, Trías E, Leipnitz G, Díaz-Amarilla P, Woontner M, Beck C, Goodman SI, Souza D, Wajner M, Barbeito L.

Hum Mol Genet. 2015 Aug 15;24(16):4504-15. doi: 10.1093/hmg/ddv175. Epub 2015 May 12.

PMID:
25968119
8.

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 VL, Matte U, de Carvalho TG, Seminotti B, Pereira CC, Koeller DM, Woontner M, Goodman SI, de Souza DO, Wajner M.

PLoS One. 2014 Mar 4;9(3):e90477. doi: 10.1371/journal.pone.0090477. eCollection 2014.

9.

Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation.

Seminotti B, Amaral AU, da Rosa MS, Fernandes CG, Leipnitz G, Olivera-Bravo S, Barbeito L, Ribeiro CA, de Souza DO, Woontner M, Goodman SI, Koeller DM, Wajner M.

Mol Genet Metab. 2013 Jan;108(1):30-9. doi: 10.1016/j.ymgme.2012.11.001. Epub 2012 Nov 9.

PMID:
23218171
10.

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.

J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. Review.

11.

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Wajner M, Goodman SI.

J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0. Review.

PMID:
21249436
12.

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.

J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27.

PMID:
20978942
13.

Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism.

Woontner M, Goodman SI.

Curr Protoc Hum Genet. 2006 Nov;Chapter 17:Unit 17.2. doi: 10.1002/0471142905.hg1702s51. Review.

PMID:
18428392
14.

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.

Biochim Biophys Acta. 2008 Jun;1782(6):385-90. doi: 10.1016/j.bbadis.2008.02.008. Epub 2008 Feb 29.

15.

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.

Mol Genet Metab. 2008 Apr;93(4):363-70. Epub 2007 Dec 21.

PMID:
18155630
16.

Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I.

Zinnanti WJ, Lazovic J, Housman C, LaNoue K, O'Callaghan JP, Simpson I, Woontner M, Goodman SI, Connor JR, Jacobs RE, Cheng KC.

J Clin Invest. 2007 Nov;117(11):3258-70.

17.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.

Stellmer F, Keyser B, Burckhardt BC, Koepsell H, Streichert T, Glatzel M, Jabs S, Thiem J, Herdering W, Koeller DM, Goodman SI, Lukacs Z, Ullrich K, Burckhardt G, Braulke T, Mühlhausen C.

J Mol Med (Berl). 2007 Jul;85(7):763-70. Epub 2007 Mar 14.

PMID:
17356845
18.

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.

J Inherit Metab Dis. 2007 Feb;30(1):5-22. Epub 2007 Jan 3.

PMID:
17203377
19.

Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.

Bjugstad KB, Crnic LS, Goodman SI, Freed CR.

J Inherit Metab Dis. 2006 Oct;29(5):612-9. Epub 2006 Aug 30.

PMID:
16944278
20.

New insights for glutaric aciduria type I.

Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, Woontner M, Goodman SI, Cheng KC.

Brain. 2006 Aug;129(Pt 8):e55. No abstract available.

PMID:
16870880
21.

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.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. Epub 2006 Jun 5.

PMID:
16753325
22.

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.

J Neurochem. 2006 May;97(3):899-910. Epub 2006 Mar 29.

23.

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D.

Mol Genet Metab. 2006 May;88(1):16-21. Epub 2006 Jan 31.

PMID:
16448836
24.

A diet-induced mouse model for glutaric aciduria type I.

Zinnanti WJ, Lazovic J, Wolpert EB, Antonetti DA, Smith MB, Connor JR, Woontner M, Goodman SI, Cheng KC.

Brain. 2006 Apr;129(Pt 4):899-910. Epub 2006 Jan 30.

PMID:
16446282
25.

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Gallagher RC, Cowan TM, Goodman SI, Enns GM.

Mol Genet Metab. 2005 Nov;86(3):417-20. Epub 2005 Sep 23.

PMID:
16183314
26.

Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.

Sauer SW, Okun JG, Schwab MA, Crnic LR, Hoffmann GF, Goodman SI, Koeller DM, Kölker S.

J Biol Chem. 2005 Jun 10;280(23):21830-6. Epub 2005 Apr 19.

27.

Glutaric aciduria type I: outcome in the Republic of Ireland.

Naughten ER, Mayne PD, Monavari AA, Goodman SI, Sulaiman G, Croke DT.

J Inherit Metab Dis. 2004;27(6):917-20.

PMID:
15505400
28.

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Strauss KA, Goodman SI, Hoffmann GF, Okun JG, Koeller DM.

J Inherit Metab Dis. 2004;27(6):843-9. Review.

PMID:
15505391
29.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

Mühlhausen C, Ergün S, Strauss KA, Koeller DM, Crnic L, Woontner M, Goodman SI, Ullrich K, Braulke T.

J Inherit Metab Dis. 2004;27(6):829-34. Review.

PMID:
15505389
30.

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.

J Inherit Metab Dis. 2004;27(6):813-8.

PMID:
15505386
31.
32.

Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.

Surendran S, Bamforth FJ, Chan A, Tyring SK, Goodman SI, Matalon R.

J Child Neurol. 2003 Nov;18(11):809-12.

PMID:
14696913
33.
34.

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

Goodman SI, Binard RJ, Woontner MR, Frerman FE.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90.

PMID:
12359134
35.

Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report.

Ojwang PJ, Pegoraro RJ, Deppe WM, Sankar R, McKerrow N, Varughese L, Stoker AF, Goodman SI.

East Afr Med J. 2001 Dec;78(12):682-5.

PMID:
12199454
36.

D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.

Wajne M, Vargas CR, Funayama C, Fernandez A, Elias ML, Goodman SI, Jakobs C, van der Knaap MS.

J Inherit Metab Dis. 2002 Feb;25(1):28-34.

PMID:
11999977
37.

Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I.

Koeller DM, Woontner M, Crnic LS, Kleinschmidt-DeMasters B, Stephens J, Hunt EL, Goodman SI.

Hum Mol Genet. 2002 Feb 15;11(4):347-57.

PMID:
11854167
38.

Alternate substrates of human glutaryl-CoA dehydrogenase: structure and reactivity of substrates, and identification of a novel 2-enoyl-CoA product.

Rao KS, Vander Velde D, Dwyer TM, Goodman SI, Frerman FE.

Biochemistry. 2002 Jan 29;41(4):1274-84.

PMID:
11802727
39.

Prenatal diagnosis of glutaric acidemias.

Goodman SI.

Prenat Diagn. 2001 Dec;21(13):1167-8. Review. No abstract available.

PMID:
11787045
40.

Addition of quantitative 3-hydroxy-octadecanoic acid to the stable isotope gas chromatography-mass spectrometry method for measuring 3-hydroxy fatty acids.

Jones PM, Tjoa S, Fennessey PV, Goodman SI, Bennett MJ.

Clin Chem. 2002 Jan;48(1):176-9. No abstract available.

PMID:
11751554
41.
42.

Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice.

Huang TT, Carlson EJ, Kozy HM, Mantha S, Goodman SI, Ursell PC, Epstein CJ.

Free Radic Biol Med. 2001 Nov 1;31(9):1101-10.

PMID:
11677043
43.

Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type 1.

Bjugstad KB, Goodman SI, Freed CR.

J Pediatr. 2000 Nov;137(5):681-6.

PMID:
11060535
44.

Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase.

Dwyer TM, Rao KS, Goodman SI, Frerman FE.

Biochemistry. 2000 Sep 19;39(37):11488-99.

PMID:
10985795
45.

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S.

J Pediatr. 2000 Feb;136(2):251-4.

PMID:
10657835
46.

Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation.

Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ.

Clin Chem. 2000 Feb;46(2):149-55.

PMID:
10657369
48.

Mitochondrial disease in superoxide dismutase 2 mutant mice.

Melov S, Coskun P, Patel M, Tuinstra R, Cottrell B, Jun AS, Zastawny TH, Dizdaroglu M, Goodman SI, Huang TT, Miziorko H, Epstein CJ, Wallace DC.

Proc Natl Acad Sci U S A. 1999 Feb 2;96(3):846-51.

49.

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON.

Hum Mutat. 1998;12(3):141-4. Review.

PMID:
9711871
50.

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.

J Inherit Metab Dis. 1998 Jun;21(4):326-40. Review.

PMID:
9700590

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