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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

Related topics

Related topics

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Broader (3)

Amino Acid Metabolism, Inborn ErrorsEnzyme DeficiencyIsovaleryl-CoA dehydrogenase
Autosomal recessive inheritanceComatoseConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDehydration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
SummaryMucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate… 
Review
2005
Review
2005
Relationship of plasma homocysteine with the severity of chronic heart failure.
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
Backbone dynamics of human Cu,Zn superoxide dismutase and of its monomeric F50E/G51E/E133Q mutant: the influence of dimerization on mobility and function.
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
beta subunits influence the biophysical and pharmacological differences between P- and Q-type calcium currents expressed in a mammalian cell line.
Human epithelial kidney cells (HEK) were prepared to coexpress alpha1A, alpha2delta with different beta calcium channel subunits… 
Highly Cited
1995
Highly Cited
1995
Distinct omega‐agatoxin‐sensitive calcium currents in somata and axon terminals of rat supraoptic neurones.
1. Voltage‐dependent calcium currents were measured at room temperature using whole‐cell patch clamp in acutely isolated somata… 
1995
1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients
Highly Cited
1992
Highly Cited
1992
Alterations in the concentrations and binding properties of sex steroid binding protein and corticosteroid-binding globulin in HIV+patients
The abnormal concentrations of steroid hormones and free fatty acids in the plasma of HIV-infected subjects are associated with… 
1990
1990
The Rett syndrome: Gross motor disability and neural impairment in adults
Review
1984
Review
1984
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16… 
Highly Cited
1968
Highly Cited
1968
Identification of beta-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia.
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