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1.

Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.

Breen C, White FJ, Scott CA, Heptinstall L, Walter JH, Jones SA, Morris AA.

Eur J Pediatr. 2014 Mar;173(3):361-6. doi: 10.1007/s00431-013-2166-5. Epub 2013 Oct 10.

PMID:
24114256
2.

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.

Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM.

Mol Genet Metab. 2005 Apr;84(4):305-12.

PMID:
15781190
3.

The clinical and biochemical implications of pyruvate carboxylase deficiency.

DeVivo DC, Haymond MW, Leckie MP, Bussman YL, McDougal DB Jr, Pagliara AS.

J Clin Endocrinol Metab. 1977 Dec;45(6):1281-96.

PMID:
412860
4.

Triheptanoin--a medium chain triglyceride with odd chain fatty acids: a new anaplerotic anticonvulsant treatment?

Borges K, Sonnewald U.

Epilepsy Res. 2012 Jul;100(3):239-44. doi: 10.1016/j.eplepsyres.2011.05.023. Epub 2011 Aug 19. Review.

5.

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment--A retrospective chart review.

Vockley J, Marsden D, McCracken E, DeWard S, Barone A, Hsu K, Kakkis E.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):53-60. doi: 10.1016/j.ymgme.2015.06.006. Epub 2015 Jun 18. Review. Erratum in: Mol Genet Metab. 2015 Nov;116(3):221.

6.

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL.

Am J Med Genet. 1999 Dec 3;87(4):331-8.

PMID:
10588840
7.

Pyruvate-carboxylase deficiency with urea cycle impairment.

Greter J, Gustafsson J, Holme E.

Acta Paediatr Scand. 1985 Nov;74(6):982-6.

PMID:
3937431
8.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

PMID:
19306334
9.

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Marin-Valencia I, Roe CR, Pascual JM.

Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Review.

PMID:
20598931
10.

Pyruvate Carboxylase Deficiency.

Wang D, De Vivo D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2009 Jun 2 [updated 2015 Jul 30].

11.

Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms.

Rutledge SL, Snead OC 3rd, Kelly DR, Kerr DS, Swann JW, Spink DL, Martin DL.

Pediatr Neurol. 1989 Jul-Aug;5(4):249-52.

PMID:
2553027
12.
13.

Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.

Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M.

Am J Med Genet. 1999 May 21;84(2):94-101.

PMID:
10323732
14.

Triheptanoin partially restores levels of tricarboxylic acid cycle intermediates in the mouse pilocarpine model of epilepsy.

Hadera MG, Smeland OB, McDonald TS, Tan KN, Sonnewald U, Borges K.

J Neurochem. 2014 Apr;129(1):107-19. doi: 10.1111/jnc.12610. Epub 2013 Dec 2.

15.

Parenteral and enteral metabolism of anaplerotic triheptanoin in normal rats. II. Effects on lipolysis, glucose production, and liver acyl-CoA profile.

Gu L, Zhang GF, Kombu RS, Allen F, Kutz G, Brewer WU, Roe CR, Brunengraber H.

Am J Physiol Endocrinol Metab. 2010 Feb;298(2):E362-71. doi: 10.1152/ajpendo.00384.2009. Epub 2009 Nov 10.

16.

[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].

Merinero Cortés B, del Valle Martínez J, Pérez-Cerdá Silvestre C, García Muñoz MJ, Cortés Coto MT, García Aparicio J, Sáez Pérez E, Ugarte Pérez M.

An Esp Pediatr. 1988 Jul;29(1):57-60. Review. Spanish. Erratum in: An Esp Pediatr 1988 Dec;29(6):488.

PMID:
3142324
17.

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.

Mol Genet Metab. 2006 Feb;87(2):175-7. Epub 2005 Dec 1.

PMID:
16325442
18.

Pyruvate carboxylase deficiency--insights from liver transplantation.

Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):143-9. Erratum in: Mol Genet Metab. 2006 Mar;87(3):278.

PMID:
12359142
19.

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM.

Ann Neurol. 2006 Jan;59(1):121-7.

PMID:
16278852
20.

Congenital lactic acidosis associated with pyruvate carboxylase deficiency.

Sagy M, Barzilay Z, Barash V, Oren M, Vardi P, Cohen BE, Gutman A.

Isr J Med Sci. 1981 Dec;17(12):1159-63.

PMID:
6799424
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