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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1936-2017
05010015019362016

Papers overview

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Review
2016
Review
2016
Obesity and insulin resistance are the major predisposing factors to comorbidities, such as Type 2 diabetes, nonalcoholic fatty… (More)
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2011
2011
Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate in urea cycle disorder patients has been associated with a… (More)
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2010
2010
Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain… (More)
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2006
2006
Background: In the rare inborn autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched… (More)
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2004
2004
Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N… (More)
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Highly Cited
2003
Highly Cited
2003
Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which affects the brain tissue resulting in… (More)
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2001
2001
Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often leads to neonatal death. Newborn… (More)
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Highly Cited
1995
Highly Cited
1995
We report a new method for the diagnosis of maple syrup urine disease (MSUD) from dried blood spots on newborn screening cards… (More)
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1991
1991
Four children with the classic form of maple syrup urine disease (MSUD) died of cerebral edema during an intercurrent infection… (More)
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1973
1973
Extract: We are reporting a patient with classic, thiamine-unresponsive maple syrup urine disease (MSUD) associated with severe… (More)
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