FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1950-2017
05010019502016

Related topics

Related topics

24 relations

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
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Isovaleryl-CoA dehydrogenase deficiency
Seizures
Hereditary Diseases
Thrombocytopenia
Vomiting
Autosomal recessive inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N… (More)
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Highly Cited
2005
Highly Cited
2005
Novel multiplex PCR assay for characterization and concomitant subtyping of staphylococcal cassette chromosome mec types I to V in methicillin-resistant Staphylococcus aureus.
Staphylococcal cassette chromosome mec (SCCmec) typing is essential for understanding the molecular epidemiology of methicillin… (More)
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Highly Cited
2000
Highly Cited
2000
Developmental changes in calcium channel types mediating central synaptic transmission.
Multiple types of high-voltage-activated Ca(2+) channels trigger neurotransmitter release at the mammalian central synapse. Among… (More)
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Highly Cited
1996
Highly Cited
1996
Changes in action potential duration alter reliance of excitatory synaptic transmission on multiple types of Ca2+ channels in rat hippocampus.
It has been established that multiple types of Ca2+ channels participate in triggering neurotransmitter release at central… (More)
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Highly Cited
1994
Highly Cited
1994
Choledochal cyst disease. A changing pattern of presentation.
OBJECTIVE The authors compared the presentation, treatment, and long-term outcome of children and adults with choledochal cysts… (More)
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Highly Cited
1994
Highly Cited
1994
Three types of Ca2+ channel trigger secretion with different efficacies in chromaffin cells
TO determine whether the different types of Ca2+channels present in the same secretory cell contribute equally to secretion, we… (More)
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Highly Cited
1992
Highly Cited
1992
P-type calcium channels in rat central and peripheral neurons.
The peptide toxin omega-Aga-IVA blocked P-type Ca2+ channel current in rat Purkinje neurons (KD approximately 2 nM) but had no… (More)
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1980
1980
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
To study the enzymatic basis of isovaleric acidemia, we have developed assay methods for isovaleryl-CoA and butyryl-CoA… (More)
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Highly Cited
1980
Highly Cited
1980
Accurate Time and Frequency Transfer during Common-view of a Gps Satellite
Even though the GPS i s p r i m a r i l y a navigat ion deduce from a GPS sate1 1 i t e ' s ephemeris, from system, i f t w o… (More)
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Highly Cited
1979
Highly Cited
1979
Two periods of early ventricular arrhythmia in the canine acute myocardial infarction model.
The time course of ventricular arrhythmias in the early period (0--30 minutes) after ligation of the left anterior descending… (More)
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