Maple syrup urine disease variant: Repor
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Koepp, P. ;Rybak, Ch. ;RοΏ½diger, H. W. ;Wendel, U.
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Article
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1974
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Springer-Verlag
β 413 KB
Clinical course and laboratory findings including enzymatic studies in leukocytes and cultured fibroblasts are reported in an infant with a variant form of maple-syrup urine disease. Presenting symptoms in the age of 7 months were coma, ataxia and gross developmental retardation. Therapy consisted