PubMed (OMIM) for id: 18801

Year	Number of Results
1969	1
1976	2
1979	2
1981	2
1983	3
1984	3
1985	1
1986	1
1987	1
1991	1
1992	1
1994	2
1995	2
1997	1
1998	2
1999	1
2002	1
2024	0

1

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

Carbone MA, Applegarth DA, Robinson BH. Carbone MA, et al. Hum Mutat. 2002 Jul;20(1):48-56. doi: 10.1002/humu.10093. Hum Mutat. 2002. PMID: 12112657

2

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. Brun N, et al. Am J Med Genet. 1999 May 21;84(2):94-101. Am J Med Genet. 1999. PMID: 10323732

3

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. Carbone MA, et al. Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884. Am J Hum Genet. 1998. PMID: 9585612 Free PMC article.

4

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. Wexler ID, et al. Pediatr Res. 1998 May;43(5):579-84. doi: 10.1203/00006450-199805000-00004. Pediatr Res. 1998. PMID: 9585002

5

Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3.

Perucca-Lostanlen D, Hecht BK, Courseaux A, Grosgeorge J, Hecht F, Gaudray P. Perucca-Lostanlen D, et al. Cytogenet Cell Genet. 1997;79(1-2):88-91. doi: 10.1159/000134689. Cytogenet Cell Genet. 1997. PMID: 9533019

6

cDNA cloning of human kidney pyruvate carboxylase.

MacKay N, Rigat B, Douglas C, Chen HS, Robinson BH. MacKay N, et al. Biochem Biophys Res Commun. 1994 Jul 29;202(2):1009-14. doi: 10.1006/bbrc.1994.2029. Biochem Biophys Res Commun. 1994. PMID: 8048912

7

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. Wexler ID, et al. Biochim Biophys Acta. 1994 Oct 21;1227(1-2):46-52. doi: 10.1016/0925-4439(94)90105-8. Biochim Biophys Acta. 1994. PMID: 7918683

8

Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation.

Walker ME, Baker E, Wallace JC, Sutherland GR. Walker ME, et al. Cytogenet Cell Genet. 1995;69(3-4):187-9. doi: 10.1159/000133958. Cytogenet Cell Genet. 1995. PMID: 7698008

9

An atypical French form of pyruvate carboxylase deficiency.

Pineda M, Campistol J, Vilaseca MA, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland MO. Pineda M, et al. Brain Dev. 1995 Jul-Aug;17(4):276-9. doi: 10.1016/0387-7604(95)00057-i. Brain Dev. 1995. PMID: 7503391

10

Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency.

Coude FX, Ogier H, Marsac C, Munnich A, Charpentier C, Saudubray JM. Coude FX, et al. Pediatrics. 1981 Dec;68(6):914. Pediatrics. 1981. PMID: 6798542 No abstract available.

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