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Pyruvate dehydrogenase E3 binding protein deficiency.
Brown RM, Head RA, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Hum Genet. 2002. PMID: 11935326
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Horga A, Woodward CE, Mills A, Pareés I, Hargreaves IP, Brown RM, Bugiardini E, Brooks T, Manole A, Remzova E, Rahman S, Reilly MM, Houlden H, Sweeney MG, Brown GK, Polke JM, Gago F, Parton MJ, Pitceathly RDS, Hanna MG. Horga A, et al. Among authors: brown rm, brown gk. Hum Genet. 2019 Dec;138(11-12):1313-1322. doi: 10.1007/s00439-019-02075-9. Epub 2019 Oct 31. Hum Genet. 2019. PMID: 31673819 Free PMC article.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A. Lissens W, et al. Among authors: brown rm, brown gk. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10679936 Review.
281 results