A NEW VARIANT OF MAPLE SYRUP URINE DISEASE (BRANCHED CHAIN KETOACIDURIA) - CLINICAL AND BIOCHEMICAL EVALUATION

被引:55
作者
SCHULMAN, JD
LUSTBERG, TJ
KENNEDY, JL
MUSELES, M
SEEGMILLER, JE
机构
关键词
D O I
10.1016/S0002-9343(70)80121-8
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:118 / +
页数:1
相关论文
共 39 条
[1]  
BOWDEN JA, 1968, J BIOL CHEM, V243, P3526
[2]  
DANCIS J, 1963, PEDIATRICS, V32, P234
[3]   METABOLISM OF THE WHITE BLOOD CELLS IN MAPLE-SYRUP-URINE DISEASE [J].
DANCIS, J ;
HUTZLER, J ;
LEVITZ, M .
BIOCHIMICA ET BIOPHYSICA ACTA, 1960, 43 (02) :342-343
[4]   METABOLISM OF LEUCINE IN TISSUE CULTURE OF SKIN FIBROBLASTS OF MAPLE-SYRUP-URINE DISEASE [J].
DANCIS, J ;
LEVITZ, M ;
HUTZLER, J ;
JANSEN, V .
BIOCHIMICA ET BIOPHYSICA ACTA, 1963, 77 (03) :523-&
[5]   INTERMITTENT BRANCHED-CHAIN KETONURIA - VARIANT OF MAPLE-SYRUP-URINE DISEASE [J].
DANCIS, J ;
HUTZLER, J ;
ROKKONES, T .
NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (02) :84-&
[6]   MAPLE SYRUP URINE DISEASE [J].
DANCIS, J ;
LEVITZ, ML ;
MILLER, S ;
WESTALL, RG .
BMJ-BRITISH MEDICAL JOURNAL, 1959, 1 (JAN10) :91-93
[7]   DETECTION OF HETEROZYGOTE IN MAPLE SYRUP URINE DISEASE [J].
DANCIS, J ;
HUTZLER, J ;
LEVITZ, M .
JOURNAL OF PEDIATRICS, 1965, 66 (03) :595-+
[8]   ENZYME DEFECT IN SKIN FIBROBLASTS IN INTERMITTENT BRANCHED-CHAIN KETONURIA AND IN MAPLE SYRUP URINE DISEASE [J].
DANCIS, J ;
HUTZLER, J ;
COX, RP .
BIOCHEMICAL MEDICINE, 1969, 2 (05) :407-&
[9]  
DANCIS J, 1967, AMINO ACID METABOLIS
[10]   CYSTATHIONINURIA - MANAGEMENT [J].
FRIMPTER, GW ;
GREENBERG, AJ ;
HILGARTNER, M ;
FUCHS, F .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1967, 113 (01) :115-+