N. MacKay - Concepedia

Author

N. MacKay

University of Toronto

Also Known As

J. Addis, N MacKay, N. MacKay, N. Mackay, Nevi MACKAY, Nevi MacKay, Nevi Mackay

Publications

740

Citations

H-Index

Concepts

All Affiliations

University of Toronto Hospital for Sick Children SickKids Foundation

About

N. MacKay is an author at University of Toronto specializing in metabolism, medicine, and biochemistry.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	175
2	Biochemistry	4	4	175
3	Natural Sciences	2	2	75
4	Health Sciences	1	1	67
5	Allergy	1	1	67

N. MacKay

Publications

586

Citations

H-Index

Page 1

	Year	Citations
A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Frank Merante, Roumyana Petrova-Benedict, N. MacKay, PubMed	1993	106
Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex. N. MacKay, A M Lam Hon Wah, B. H. Robinson Journal of Biological Chemistry	1988	75
Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. B. H. Robinson, N. MacKay, Roumyana Petrova-Benedict, Journal of Clinical Investigation PathologyMissing X ComponentDermatologyOxidative StressBiosynthesis	1990	67
A Novel Mitochondrial DNA Mutation in<i>COX1</i>Leads to Strokes, Seizures, and Lactic Acidosis Emily Tam, Annette Feigenbaum, Jane Addis, Neuropediatrics	2008	59
Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations Mary Anna Carbone, N. MacKay, Mingfu Ling, The American Journal of Human Genetics BiochemistryGenetic DisorderNatural SciencesGeneticsDistinct Missense Mutations	1998	56
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype Mark A. Tarnopolsky, Jacqueline M. Bourgeois, M‐H. Fu, American Journal of Medical Genetics Part A	2003	55
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. Kathy Chun, N. MacKay, Roumyana Petrova-Benedict, PubMed	1995	53
Pyruvate Dehydrogenase Deficiency Presenting as Intermittent Isolated Acute Ataxia F.-G. Debray, M Lambert, Roxane Gagné, Neuropediatrics	2008	42
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype Jessie M. Cameron, Mary C. Maj, Valeriy Levandovskiy, Human Genetics Developmental BiologyBiochemistryGenetic DisorderGeneticsMolecular Genetics	2009	33
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. Kathy Chun, N. MacKay, Roumyana Petrova-Benedict, PubMed	1991	21

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