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Results: 10

1.

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.

PMID:
24530203
[PubMed - indexed for MEDLINE]
Free Article
2.

Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

Ortez C, Jou C, Cortès-Saladelafont E, Moreno J, Pérez A, Ormazábal A, Pérez-Cerdá C, Pérez B, Artuch R, Cusi V, García-Cazorla A.

Gene. 2013 Dec 15;532(2):302-6. doi: 10.1016/j.gene.2013.08.036. Epub 2013 Aug 23.

PMID:
23973720
[PubMed - indexed for MEDLINE]
3.

Disorders of pyruvate metabolism.

De Meirleir L.

Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Review.

PMID:
23622387
[PubMed - indexed for MEDLINE]
4.

Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only.

Wang HS, Lin KL.

Biomed J. 2013 Jan-Feb;36(1):16-7. doi: 10.4103/2319-4170.107155. Review.

PMID:
23515149
[PubMed - indexed for MEDLINE]
Free Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

Wang D, Yang H, De Braganca KC, Lu J, Yu Shih L, Briones P, Lang T, De Vivo DC.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):31-8. doi: 10.1016/j.ymgme.2008.06.006. Epub 2008 Aug 3.

PMID:
18676167
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]

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