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Items: 1 to 20 of 100

1.

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
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.

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
4.
5.

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
7.

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
8.

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.

9.

Primary amino acid sequence and structure of human pyruvate carboxylase.

Wexler ID, Du Y, Lisgaris MV, Mandal SK, Freytag SO, Yang BS, Liu TC, Kwon M, Patel MS, Kerr DS.

Biochim Biophys Acta. 1994 Oct 21;1227(1-2):46-52.

PMID:
7918683
10.

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
11.
13.

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH.

Am J Hum Genet. 1998 Jun;62(6):1312-9.

14.

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.

Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C.

Am J Hum Genet. 1994 Mar;54(3):454-63.

16.

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.

Suormala T, Wick H, Bonjour JP, Baumgartner ER.

Clin Chim Acta. 1985 Jan 30;145(2):151-62.

PMID:
3918814
17.

Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.

Augereau C, Pham Dinh D, Moncion A, Marsac C, Saudubray JM, Robinson BH.

J Inherit Metab Dis. 1985;8(2):59-62.

PMID:
3939532
18.

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
19.

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
20.

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