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Maple Syrup Urine Disease

Known as: Branched-Chain Ketoacidurias, BRANCHED-CHAIN KETONURIA, Branched Chain Ketoaciduria 
An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Disease emergence events regularly result from human activities such as agriculture, which frequently brings large populations of… Expand
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Review
2017
Review
2017
Mendelian randomization (MR) is a burgeoning field that involves the use of genetic variants to assess causal relationships… Expand
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Review
2017
Review
2017
Gout is a picturesque presentation of uric acid disturbance. It is the most well understood and described type of arthritis. Its… Expand
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Highly Cited
2016
Highly Cited
2016
Insulin resistance is a forerunner state of ischaemic cardiovascular disease and type 2 diabetes. Here we show how the human gut… Expand
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Review
2015
Review
2015
Acaricides are one of the cornerstones of an efficient control program for phytophagous mites. An analysis of the global… Expand
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2013
2013
Maple syrup urine disease (MSUD) is an autosomal-recessive inherited metabolic disorder involving the branched-chain amino acids… Expand
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Highly Cited
2010
Highly Cited
2010
BACKGROUND Metabolomics is the rapidly evolving field of the comprehensive measurement of ideally all endogenous metabolites in a… Expand
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Highly Cited
2006
Highly Cited
2006
Development of the acute and chronic inflammatory responses known as gout and pseudogout are associated with the deposition of… Expand
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Highly Cited
2002
Highly Cited
2002
OBJECTIVE To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS Family histories and… Expand
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Highly Cited
1990
Highly Cited
1990
 
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