MacKay N - Search Results

1

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Chun K, et al. Among authors: mackay n. Hum Mol Genet. 1993 Apr;2(4):449-54. doi: 10.1093/hmg/2.4.449. Hum Mol Genet. 1993. PMID: 8504306

2

Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex.

Chun K, Mackay N, Willard HF, Robinson BH. Chun K, et al. Among authors: mackay n. Eur J Biochem. 1990 Dec 12;194(2):587-92. doi: 10.1111/j.1432-1033.1990.tb15656.x. Eur J Biochem. 1990. PMID: 1702713 Free article.

3

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Chun K, et al. Among authors: mackay n. Am J Hum Genet. 1991 Aug;49(2):414-20. Am J Hum Genet. 1991. PMID: 1907799 Free PMC article.

4

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW. Robinson BH, et al. Among authors: mackay n. J Clin Invest. 1990 Jun;85(6):1821-4. doi: 10.1172/JCI114641. J Clin Invest. 1990. PMID: 2112155 Free PMC article.

5

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.

De Meirleir L, MacKay N, Lam Hon Wah AM, Robinson BH. De Meirleir L, et al. Among authors: mackay n. J Biol Chem. 1988 Feb 5;263(4):1991-5. J Biol Chem. 1988. PMID: 2828359 Free article.

6

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. Among authors: mackay n. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.

7

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. Among authors: mackay n. Am J Hum Genet. 1993 Aug;53(2):481-7. Am J Hum Genet. 1993. PMID: 8392290 Free PMC article.

8

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.

Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. Among authors: mackay n. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.

9

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. Among authors: mackay n. Hum Mol Genet. 1998 Mar;7(3):501-5. doi: 10.1093/hmg/7.3.501. Hum Mol Genet. 1998. PMID: 9467010

10

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. Among authors: mackay n. Am J Hum Genet. 1998 Jun;62(6):1312-9. doi: 10.1086/301884. Am J Hum Genet. 1998. PMID: 9585612 Free PMC article.

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