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Isovaleryl-CoA dehydrogenase deficiency

Known as: Isovalericacidemia, isovaleryl coA dehydrogenase deficiency, Isovaleric acid CoA dehydrogenase deficiency 
A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine… 
National Institutes of Health

Papers overview

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2007
2007
SummaryMucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate… 
Review
2005
Review
2005
Chronic heart failure (CHF) is a major public health problem causing considerable morbidity and mortality (1)(2)(3). Prevention… 
Highly Cited
2000
Highly Cited
2000
The backbone assignment of reduced human dimeric Cu,Zn superoxide dismutase (SOD) was performed on a sample 100% enriched in (15… 
Highly Cited
1997
Highly Cited
1997
Human epithelial kidney cells (HEK) were prepared to coexpress alpha1A, alpha2delta with different beta calcium channel subunits… 
Highly Cited
1995
Highly Cited
1995
1. Voltage‐dependent calcium currents were measured at room temperature using whole‐cell patch clamp in acutely isolated somata… 
Highly Cited
1992
Highly Cited
1992
The abnormal concentrations of steroid hormones and free fatty acids in the plasma of HIV-infected subjects are associated with… 
Review
1984
Review
1984
Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16…