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Items: 1 to 20 of 174

1.

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
2.

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
3.

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
4.

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

Higgins JJ, Glasgow AM, Lusk M, Kerr DS.

J Child Neurol. 1994 Oct;9(4):436-9.

PMID:
7822739
5.

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
6.

Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.

Higgins JJ, Ide SE, Oghalai JS, Polymeropoulos MH.

Clin Biochem. 1997 Feb;30(1):79-81. No abstract available.

PMID:
9056115
7.

[Pyruvate carboxylase deficiency].

Naito E.

Nihon Rinsho. 2002 Apr;60 Suppl 4:755-8. Review. Japanese. No abstract available.

PMID:
12013992
8.
9.

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Van Coster RN, Janssens S, Misson JP, Verloes A, Leroy JG.

Prenat Diagn. 1998 Oct;18(10):1041-4.

PMID:
9826895
10.

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.

11.

[Pyruvate carboxylase deficiency].

Naito E.

Ryoikibetsu Shokogun Shirizu. 2001;(36):100-2. Review. Japanese. No abstract available.

PMID:
11596335
12.

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.

Carbone MA, Applegarth DA, Robinson BH.

Hum Mutat. 2002 Jul;20(1):48-56.

PMID:
12112657
13.

The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Robinson BH, Oei J, Sherwood WG, Applegarth D, Wong L, Haworth J, Goodyer P, Casey R, Zaleski LA.

Am J Hum Genet. 1984 Mar;36(2):283-94.

14.

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
15.

Defects of pyruvate metabolism and the Krebs cycle.

De Meirleir L.

J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4. Review.

PMID:
12597053
16.

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.

Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ.

Pediatr Res. 1998 May;43(5):579-84.

PMID:
9585002
17.

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
18.

[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
19.

Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.

Atkin BM, Buist NR, Utter MF, Leiter AB, Banker BQ.

Pediatr Res. 1979 Feb;13(2):109-16.

PMID:
219411
20.

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