BCKDHB gene

Known as: maple syrup urine disease, BCKDHB, BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE 
 

Topic mentions per year

Topic mentions per year

1991-2018
02419912018

Papers overview

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2017
2017
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain… (More)
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2015
2015
Intermittent maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by a deficiency of… (More)
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2015
2015
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that affects the degradation of branched chain amino… (More)
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2012
2012
OBJECTIVE Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA, BCKDHB and DBT genes, which encode… (More)
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2012
2012
Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid… (More)
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2009
2009
The complete coding sequences of porcine genesNCF2, BCKDHB andBCKDHA were amplified by using reverse transcriptase polymerase… (More)
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2006
2006
Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic… (More)
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2004
2004
Recombinant adenoviral vectors have been developed for use as therapeutic agents and for the introduction of exogenous genes into… (More)
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2003
2003
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of… (More)
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1991
1991
Maple syrup urine disease (MSUD) is caused by the deficiency of the mitochondrial branched-chain alpha-keto acid dehydrogenase… (More)
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