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Decreased resting energy expenditure in patients with Duchenne muscular dystrophy.
Shimizu-Fujiwara M, Komaki H, Nakagawa E, Mori-Yoshimura M, Oya Y, Fujisaki T, Tokita Y, Kubota N, Shimazaki R, Sato K, Ishikawa T, Goto K, Mochizuki H, Takanoha S, Ogata K, Kawai M, Konagaya M, Miyazaki T, Tatara K, Sugai K, Sasaki M. Shimizu-Fujiwara M, et al. Brain Dev. 2012 Mar;34(3):206-12. doi: 10.1016/j.braindev.2011.05.005. Epub 2011 May 31. Brain Dev. 2012. PMID: 21632191
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H, Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I. Mori-Yoshimura M, et al. J Neurol Sci. 2012 Jul 15;318(1-2):100-5. doi: 10.1016/j.jns.2012.03.016. Epub 2012 Apr 14. J Neurol Sci. 2012. PMID: 22507750
111 results