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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1949-2018
010020019492017

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Highly Cited
2014
Highly Cited
2014
n engl j med 370;9 nejm.org february 27, 2014 794 likely that such efficacy will be shown until the vaccines are licensed and… (More)
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Highly Cited
2013
Highly Cited
2013
Eleven susceptibility loci for late-onset Alzheimer's disease (LOAD) were identified by previous studies; however, a large… (More)
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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… (More)
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2011
2011
INTRODUCTION Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), also called glutaric aciduria type II, is an inherited… (More)
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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… (More)
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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… (More)
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Highly Cited
2003
Highly Cited
2003
Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a… (More)
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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… (More)
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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… (More)
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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… (More)
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