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

Papers overview

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Highly Cited
2007
Highly Cited
2007
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
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
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
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
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
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
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
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
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
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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