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Yamazaki N, Matsuo T, Kurata M, Suzuki M, Fujiwaki T, Yamaguchi S, Terada H, Shinohara Y: Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms

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After centrifugation for 15 min at 12,000 g , a 120 l supernatant was mixed with 100 l each of solution 1 (containing 100 mM phenol and 50 mg l 1 sodium nitroprusside) and solution 2 (comprising 0.38 M dibasic sodium phosphate, 125 mM NaOH, and 1% sodium hypochlorite with available chlorine ranging from 10 to 15%)

The mouse model exhibited a phenotype with a large increase in levels of the enzyme substrate trimethyllysine (TML) and very low carnitine levels