Mild variant of maple syrup urine diseas
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Soichi Kodama; Atsusi Seki; Michisada Hanabusa; Yorihiko Morisita; Takasi Sakura
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Article
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1976
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Springer
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English
โ 312 KB
Amino acids analysis were made on serum and cerebrospinal fluid samples of a Japanese 5-month-old infant suffering from irritability and mental retardation noticed at 2 months of age. Excessive amounts of branched-chain amino acids and of keto acids were detected in those samples and the large quant