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Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Known as: MADD (Multiple Acyl-CoA Dehydrogenase Deficiency), Glutaric Aciduria, Type 2, Electron Transfer Flavoprotein Deficiency 
A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of… Expand
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder caused by deficiency of electron… Expand
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Highly Cited
2013
Highly Cited
2013
Insulin secretion has a crucial role in glucose homeostasis, and failure to secrete sufficient insulin is a hallmark of type 2… Expand
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Highly Cited
2012
Highly Cited
2012
BRAF is a serine/threonine protein kinase activating the MAP kinase/ERK-signaling pathway. About 50 % of melanomas harbors… Expand
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Highly Cited
2010
Highly Cited
2010
We examine the effects of weekend versus weekday and work versus nonwork experiences on mood and other well-being indicators in a… Expand
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Highly Cited
2008
Highly Cited
2008
Ecological momentary assessment (EMA; Stone & Shiffman, 1994) was used to characterize and quantify a dynamic process--affective… Expand
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Highly Cited
2007
Highly Cited
2007
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic… Expand
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Highly Cited
2002
Highly Cited
2002
Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin… Expand
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Highly Cited
2001
Highly Cited
2001
 
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE:We have undertaken a study to assess the efficiency of serological tests in the diagnosis of celiac disease (CD) during… Expand
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Highly Cited
1998
Highly Cited
1998
BACKGROUND & AIMS Immunoglobulin A (IgA) autoantibodies to endomysium (EMA) are highly specific and sensitive markers for celiac… Expand
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