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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… Expand
National Institutes of Health

Related topics

Related topics

25 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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Papers overview

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Highly Cited
2007
Highly Cited
2007
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
SummaryMucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is a lysosomal storage disorder caused by deficiency of N… Expand
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Highly Cited
2005
Highly Cited
2005
Impaired cognitive performance in patients with chronic burnout syndrome
Chronic burnout refers to a syndrome caused by chronic stress. Clinical observations indicate that chronic burnout is associated… Expand
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Review
2003
Review
2003
Incidence of the mucopolysaccharidoses in Western Australia.
An epidemiological study of the mucopolysaccharidoses in Western Australia (WA) using multiple ascertainment sources was carried… Expand
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Highly Cited
2003
Highly Cited
2003
Detection of malingering in assessment of adult ADHD.
  • Colleen A Quinn
  • Archives of clinical neuropsychology : the…
  • 2003
    • Corpus ID: 13076684
Comparisons of two assessment measures for ADHD: the ADHD Behavior Checklist and the Integrated Visual and Auditory Continuous… Expand
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Highly Cited
2003
Highly Cited
2003
Classification of congenital biliary cystic disease: special reference to type Ic and IVA cysts with primary ductal stricture.
Congenital biliary cysts occur not only in the choledochus but also everywhere in the biliary tree, and are frequently… Expand
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Highly Cited
1995
Highly Cited
1995
Tumor perfusion studies using fast magnetic resonance imaging technique in advanced cervical cancer: a new noninvasive predictive assay.
PURPOSE This study investigated sequential changes in tumor blood supply using magnetic resonance (MR) perfusion imaging and… Expand
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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… Expand
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Highly Cited
1983
Highly Cited
1983
The laminar organization of the lateral geniculate body and the striate cortex in the squirrel monkey (Saimiri sciureus)
The organization of the projection from the lateral geniculate body to the striate cortex in the squirrel monkey has been re… Expand
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Highly Cited
1980
Highly Cited
1980
Accurate Time and Frequency Transfer During Common-View of a GPS Satellite
Summary First, Clock A and a GPS receiver are used to Even though the GPS is primarily a navigation deduce from a GPS sate1 1 ite… Expand
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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… Expand
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