Organic acidemias

 
National Institutes of Health

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2013
2013
Organic acidemias (OAs) are rare inborn errors of metabolism. The clinical presentations of methylmalonic acidemia (MMA) and… (More)
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2010
2010
Methylmalonic acidemia (MMA) is an organic acidemia caused by deficient activity of the mitochondrial enzyme methylmalonyl-CoA… (More)
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2009
2009
BACKGROUND The gas chromatography/mass spectrometry (GC/MS) method for organic acid analysis was established in developed… (More)
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2005
2005
OBJECTIVE The diagnosis of organic acidemia is very difficult and needs special test methods. Recently the tandem mass… (More)
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2005
2005
Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We… (More)
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2002
2002
BACKGROUND Organic acidurias or organic acidemias are inherited metabolic disorders in which organic acids (carboxylic acids… (More)
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1999
1999
A gas chromatography tandem mass spectrometry method using an ion trap GC/MS system was developed to quickly screen urine samples… (More)
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Highly Cited
1995
Highly Cited
1995
ABSTRACT: Acylcarnitine profiling from blood or plasma samples by electrospray tandem mass spectrometry (ESI-MS/MS) has been… (More)
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1994
1994
The results of CT and/or MRI of the brain in 107 patients with different types of organic acidemia are presented. The CSF spaces… (More)
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Review
1985
Review
1985
Relative carnitine deficiency is important in the pathophysiology of several disorders, including Reye's syndrome and organic… (More)
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