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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

Related topics

Related topics

18 relations
ACADS geneConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomIn BloodInborn Errors of Metabolism
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Narrower (3)

Glutaric Aciduria IIAGlutaric Aciduria IIBGlutaric Aciduria IIC

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency
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
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
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
The role of BRAF V600 mutation in melanoma
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
Weekends, Work, and Well-Being: Psychological Need Satisfactions and Day of the Week Effects on Mood, Vitality, and Physical Symptoms
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
Affective instability: measuring a core feature of borderline personality disorder with ecological momentary assessment.
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
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
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
The first large population based twin study of coeliac disease
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
Language learning at university: Exploring the role of motivational thinking
 
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Highly Cited
1999
Highly Cited
1999
Sensitivity of antiendomysium and antigliadin antibodies in untreated celiac disease: disappointing in clinical practice
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
Autoantibodies to tissue transglutaminase as predictors of celiac disease.
BACKGROUND & AIMS Immunoglobulin A (IgA) autoantibodies to endomysium (EMA) are highly specific and sensitive markers for celiac… Expand
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