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Measurement of the ratio of lactate to pyruvate in skin fibroblast cultures.
Mackay N, Robinson BH. Mackay N, et al. Methods Cell Biol. 2007;80:173-8. doi: 10.1016/S0091-679X(06)80008-7. Methods Cell Biol. 2007. PMID: 17445694 No abstract available.
A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.
Seyda A, Newbold RF, Hudson TJ, Verner A, MacKay N, Winter S, Feigenbaum A, Malaney S, Gonzalez-Halphen D, Cuthbert AP, Robinson BH. Seyda A, et al. Am J Hum Genet. 2001 Feb;68(2):386-96. doi: 10.1086/318196. Epub 2001 Jan 10. Am J Hum Genet. 2001. PMID: 11156534 Free PMC article.
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.
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH. Ling M, et al. Hum Mol Genet. 1998 Mar;7(3):501-5. doi: 10.1093/hmg/7.3.501. Hum Mol Genet. 1998. PMID: 9467010
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.
Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagné R, Robinson BH. Merante F, et al. Am J Hum Genet. 1993 Aug;53(2):481-7. Am J Hum Genet. 1993. PMID: 8392290 Free PMC article.
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
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Chun K, et al. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.
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