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Results: 1 to 20 of 229

1.

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.

PMID:
17932566
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
Free Article
3.

Glutaric acidemia type 1.

Hedlund GL, Longo N, Pasquali M.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. Review.

PMID:
16602100
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1.

Thies B, Meyer-Schwesinger C, Lamp J, Schweizer M, Koeller DM, Ullrich K, Braulke T, Mühlhausen C.

Biochim Biophys Acta. 2013 Oct;1832(10):1463-72. doi: 10.1016/j.bbadis.2013.04.019. Epub 2013 Apr 24.

PMID:
23623985
[PubMed - indexed for MEDLINE]
Free Article
5.

Mouse model of encephalopathy and novel treatment strategies with substrate competition in glutaric aciduria type I.

Zinnanti WJ, Lazovic J.

Mol Genet Metab. 2010;100 Suppl 1:S88-91. doi: 10.1016/j.ymgme.2010.02.022. Epub 2010 Mar 1.

PMID:
20299259
[PubMed - indexed for MEDLINE]
6.

Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.

Sauer SW, Opp S, Hoffmann GF, Koeller DM, Okun JG, Kölker S.

Brain. 2011 Jan;134(Pt 1):157-70. doi: 10.1093/brain/awq269. Epub 2010 Oct 4.

PMID:
20923787
[PubMed - indexed for MEDLINE]
Free Article
7.

Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.

Kölker S, Koeller DM, Okun JG, Hoffmann GF.

Ann Neurol. 2004 Jan;55(1):7-12. Review.

PMID:
14705106
[PubMed - indexed for MEDLINE]
8.

Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.

Sauer SW.

J Inherit Metab Dis. 2007 Oct;30(5):673-80. Epub 2007 Sep 21.

PMID:
17879145
[PubMed - indexed for MEDLINE]
9.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.

Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy NP, Hoffmann GF, Garbade SF, Kölker S.

Brain. 2009 Jul;132(Pt 7):1764-82. doi: 10.1093/brain/awp112. Epub 2009 May 11.

PMID:
19433437
[PubMed - indexed for MEDLINE]
Free Article
10.

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.

Funk CB, Prasad AN, Frosk P, Sauer S, Kölker S, Greenberg CR, Del Bigio MR.

Brain. 2005 Apr;128(Pt 4):711-22. Epub 2005 Feb 2.

PMID:
15689364
[PubMed - indexed for MEDLINE]
Free Article
11.

Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis.

Leibel RL, Shih VE, Goodman SI, Bauman ML, McCabe ER, Zwerdling RG, Bergman I, Costello C.

Neurology. 1980 Nov;30(11):1163-8.

PMID:
6775244
[PubMed - indexed for MEDLINE]
12.

Nutrition support for glutaric acidemia type I.

Yannicelli S, Rohr F, Warman ML.

J Am Diet Assoc. 1994 Feb;94(2):183-8,191; quiz 189-90. Review.

PMID:
8300996
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
Free Article
14.

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

Lamp J, Keyser B, Koeller DM, Ullrich K, Braulke T, Mühlhausen C.

J Biol Chem. 2011 May 20;286(20):17777-84. doi: 10.1074/jbc.M111.232744. Epub 2011 Mar 29.

PMID:
21454630
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)].

Lawrenz-Wolf B, Herberg KP, Hoffmann GF, Hunneman DH, Lehnert W, Hanefeld F.

Klin Padiatr. 1993 Jan-Feb;205(1):23-9. German.

PMID:
8445849
[PubMed - indexed for MEDLINE]
16.

'Glutaric aciduria type I--an easily diagnosable and treatable metabolic disorder'.

Kamate M, Patil VD, Chetal V, Hattiholi V.

Indian J Pediatr. 2009 May;76(5):562-3. doi: 10.1007/s12098-009-0080-7. No abstract available.

PMID:
19390803
[PubMed - indexed for MEDLINE]
17.

[Glutaric aciduria type I: an organic acidemia without acidosis with severe movement disorders].

Prats Viñas J.

Neurologia. 2001 Oct;16(8):337-41. Spanish. No abstract available.

PMID:
11738010
[PubMed - indexed for MEDLINE]
18.

Glutaric aciduria type 1: proton magnetic resonance spectroscopy findings.

Kurul S, Cakmakçi H, Dirik E.

Pediatr Neurol. 2004 Sep;31(3):228-31.

PMID:
15351027
[PubMed - indexed for MEDLINE]
19.

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy.

Kölker S, Hoffmann GF.

Neurology. 2003 Apr 22;60(8):1399; author reply 1399. No abstract available.

PMID:
12707462
[PubMed - indexed for MEDLINE]
20.

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, García-Cazorla A, Serrano M, Pineda M, Campistol J.

Eur J Paediatr Neurol. 2009 Nov;13(6):534-40. doi: 10.1016/j.ejpn.2008.12.002. Epub 2009 Jan 22.

PMID:
19167251
[PubMed - indexed for MEDLINE]
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