MAPLE SYRUP URINE DISEASE - ANALYSIS OF BRANCHED-CHAIN KETOACID DECARBOXYLATION IN CULTURED FIBROBLASTS

被引：22

作者：

WENDEL, U ^{[1
]}

WENTRUP, H ^{[1
]}

RUDIGER, HW ^{[1
]}

机构：

[1] UNIV HAMBURG,DEPT HUMAN GENET,DIV CYTOGENET & CLIN GENET,HAMBURG,FED REP GER

来源：

PEDIATRIC RESEARCH | 1975年 / 9卷 / 09期

关键词：

D O I：

10.1203/00006450-197509000-00005

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：709 / 717

页数：9

共 50 条

[21] DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA)
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ARCHIVES OF DISEASE IN CHILDHOOD, 1963, 38 (201) : 485 - +
[22] Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease
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[23] DIFFERENTIALLY IMPAIRED OXIDATION OF BRANCHED-CHAIN AMINO-ACIDS IN MAPLE SYRUP URINE DISEASE (MSUD) FIBROBLASTS
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[24] MAPLE SYRUP URINE DISEASE - BRANCHED-CHAIN AMINO-ACID CONCENTRATIONS AND METABOLISM IN CULTURED HUMAN LYMPHOBLASTS
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[25] RAPID METHOD FOR ASSAY OF BRANCHED-CHAIN KETO ACID DECARBOXYLATION IN CULTURED-CELLS AND ITS APPLICATION TO PRENATAL DIAGNOSIS OF MAPLE SYRUP URINE DISEASE
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[26] Impaired assembly of E1 decarboxylase of the branched-chain α-ketoacid dehydrogenase complex in type IA maple syrup urine disease
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[27] CHARACTERISTIC EEG FINDING IN NEWBORNS WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA)
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[28] IDENTIFICATION OF A MUTATION IN THE BRANCHED-CHAIN KETOACID DEHYDROGENASE E1-ALPHA SUBUNIT IN A PATIENT WITH CLASSICAL MAPLE SYRUP URINE DISEASE
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[29] ABSENCE OF BRANCHED-CHAIN ACYL-TRANSFERASE AS A CAUSE OF MAPLE SYRUP URINE DISEASE
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[30] Branched-chain ketoacyl dehydrogenase deficiency: Maple syrup disease
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