TARUI DISEASE
\tˈɑːɹuːˌi dɪzˈiːz], \tˈɑːɹuːˌi dɪzˈiːz], \t_ˈɑː_ɹ_uː_ˌi d_ɪ_z_ˈiː_z]\
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An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
By DataStellar Co., Ltd
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dust storm
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