Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency

Autor: Cameron, Jessie M., Maj, Mary C., Levandovskiy, Valeriy, MacKay, Neviana, Shelton, G. Diane, Robinson, Brian H.

Publikováno v: In Molecular Genetics and Metabolism 2007 90(1):15-23

A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

Autor: Seyda, Agnieszka, Newbold, Robert F., Hudson, Thomas J., Verner, Andrei, MacKay, Neviana, Winter, Susan, Feigenbaum, Annette, Malaney, Suzann, Gonzalez-Halphen, Diego, Cuthbert, Andrew P., Robinson, Brian H.

Publikováno v: In The American Journal of Human Genetics 2001 68(2):386-396

Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Autor: Chun, Kathy, MacKay, Neviana, Petrova-Benedict, Roumyana, Robinson, Brian H.

Publikováno v: Human Molecular Genetics; Apr1993, Vol. 2 Issue 4, p449-454, 6p

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.

Autor: Maj MC; Metabolic Research Program, Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8., MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2005 Jul; Vol. 90 (7), pp. 4101-7. Date of Electronic Publication: 2005 Apr 26.