MAPLE SYRUP URINE DISEASE - A POSSIBLE BIOCHEMICAL BASIS FOR THE CLINICAL HETEROGENEITY

被引：18

作者：

INDO, Y ^{[1
]}

AKABOSHI, I ^{[1
]}

NOBUKUNI, Y ^{[1
]}

ENDO, F ^{[1
]}

MATSUDA, I ^{[1
]}

机构：

[1] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,KUMAMOTO 860,JAPAN

来源：

HUMAN GENETICS | 1988年 / 80卷 / 01期

关键词：

D O I：

10.1007/BF00451447

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：6 / 10

页数：5

共 28 条

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[2] ACTIVITIES OF BRANCHED-CHAIN 2-OXO ACID DEHYDROGENASE AND ITS COMPONENTS IN SKIN FIBROBLASTS FROM NORMAL AND "CLASSICAL-MAPLE-SYRUP-URINE-DISEASE SUBJECTS
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[3] INTERMITTENT BRANCHED-CHAIN KETONURIA - VARIANT OF MAPLE-SYRUP-URINE DISEASE
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[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (02) : 84 - &
[4] ENZYME-ACTIVITY IN CLASSICAL AND VARIANT FORMS OF MAPLE SYRUP URINE DISEASE
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COX, RP
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[J]. JOURNAL OF PEDIATRICS, 1972, 81 (02) : 312 - +
[5] MAPLE SYRUP URINE DISEASE
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[J]. BMJ-BRITISH MEDICAL JOURNAL, 1959, 1 (JAN10): : 91 - 93
[6] ABSENCE OF BRANCHED-CHAIN ACYL-TRANSFERASE AS A CAUSE OF MAPLE SYRUP URINE DISEASE
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ARMSTRONG, N
HEFFELFINGER, SC
SEWELL, ET
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ELSAS, LJ
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1985, 75 (03) : 858 - 860
[7] BRANCHED-CHAIN AMINO-ACID-METABOLISM
HARPER, AE
MILLER, RH
BLOCK, KP
[J]. ANNUAL REVIEW OF NUTRITION, 1984, 4 : 409 - 454
[8] IDENTIFICATION OF SPECIFIC SUBUNITS OF HIGHLY PURIFIED BOVINE LIVER BRANCHED-CHAIN KETOACID DEHYDROGENASE
HEFFELFINGER, SC
SEWELL, ET
DANNER, DJ
[J]. BIOCHEMISTRY, 1983, 22 (24) : 5519 - 5522
[9] BLOOD AND TISSUE BRANCHED-CHAIN AMINO AND ALPHA-KETO ACID CONCENTRATIONS - EFFECT OF DIET, STARVATION, AND DISEASE
HUTSON, SM
HARPER, AE
[J]. AMERICAN JOURNAL OF CLINICAL NUTRITION, 1981, 34 (02) : 173 - 183
[10] IDE S, 1967, J BIOL CHEM, V242, P54

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