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Items: 14


Atypical imaging findings in the setting of methylmalonic acidemia in an infant.

Chang W, Gupta N, Duane D, Barnes P, Yeom K.

Radiol Case Rep. 2015 Dec 7;7(4):749. doi: 10.2484/rcr.v7i4.749. eCollection 2012.


Diagnosis and Genetic Analysis of Glutaric Acidaemia Type I: Very rarely seen inborn error of metabolism.

Vasikarla M, Pandita A, Sharma D, Pratap OT, Murki S.

Sultan Qaboos Univ Med J. 2015 Nov;15(4):e572-3. doi: 10.18295/squmj.2015.15.04.026. Epub 2015 Nov 23. No abstract available.


Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.

Brown A, Crowe L, Beauchamp MH, Anderson V, Boneh A.

JIMD Rep. 2015;18:125-34. doi: 10.1007/8904_2014_360. Epub 2014 Dec 11.


Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model.

Fu X, Gao H, Tian F, Gao J, Lou L, Liang Y, Ning Q, Luo X.

PLoS One. 2014 Oct 15;9(10):e110181. doi: 10.1371/journal.pone.0110181. eCollection 2014.


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.


Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I.

Zinnanti WJ, Lazovic J, Housman C, Antonetti DA, Koeller DM, Connor JR, Steinman L.

Acta Neuropathol Commun. 2014 Jan 27;2:13. doi: 10.1186/2051-5960-2-13.


N-acetylcysteine prevents spatial memory impairment induced by chronic early postnatal glutaric acid and lipopolysaccharide in rat pups.

Rodrigues FS, Souza MA, Magni DV, Ferreira AP, Mota BC, Cardoso AM, Paim M, Xavier LL, Ferreira J, Schetinger MR, Da Costa JC, Royes LF, Fighera MR.

PLoS One. 2013 Oct 24;8(10):e78332. doi: 10.1371/journal.pone.0078332. eCollection 2013.


Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.

Jafari P, Braissant O, Zavadakova P, Henry H, Bonafé L, Ballhausen D.

PLoS One. 2013;8(1):e53735. doi: 10.1371/journal.pone.0053735. Epub 2013 Jan 10.


Striatal necrosis in type 1 glutaric aciduria: Different stages in two siblings.

Sen A, Pillay RS.

J Pediatr Neurosci. 2011 Jul;6(2):146-8. doi: 10.4103/1817-1745.92845.


Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening.

Begley DW, Davies DR, Hartley RC, Hewitt SN, Rychel AL, Myler PJ, Van Voorhis WC, Staker BL, Stewart LJ.

Acta Crystallogr Sect F Struct Biol Cryst Commun. 2011 Sep 1;67(Pt 9):1060-9. doi: 10.1107/S1744309111014436. Epub 2011 Aug 13.


New frontiers in neuroimaging applications to inborn errors of metabolism.

Prust MJ, Gropman AL, Hauser N.

Mol Genet Metab. 2011 Nov;104(3):195-205. doi: 10.1016/j.ymgme.2011.06.020. Epub 2011 Jun 30. Review.


The anti-necrosis role of hypoxic preconditioning after acute anoxia is mediated by aldose reductase and sorbitol pathway in PC12 cells.

Wu LY, Ma ZM, Fan XL, Zhao T, Liu ZH, Huang X, Li MM, Xiong L, Zhang K, Zhu LL, Fan M.

Cell Stress Chaperones. 2010 Jul;15(4):387-94. doi: 10.1007/s12192-009-0153-6. Epub 2009 Nov 10.


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.


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.

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