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Organic acidemias

 
National Institutes of Health

Papers overview

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2012
2012
Guven A, Cebeci N, Dursun A, Aktekin EH, Baumgartner MR, Fowler B. Methylmalonic acidemia mimicking diabetic ketoacidosis in an… Expand
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Highly Cited
2009
Highly Cited
2009
BACKGROUND The gas chromatography/mass spectrometry (GC/MS) method for organic acid analysis was established in developed… Expand
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2001
2001
The concept of sudden infant death syndrome (SIDS) was introduced in the early 1970s in an attempt to categorize death in a group… Expand
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Highly Cited
2000
Highly Cited
2000
A simplified method for organic acidemia screening using GC/MS, the urease/direct method, is now available. To establish a… Expand
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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… Expand
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Review
1999
Review
1999
For the past 30 years, neonatal screening programs have been performed largely by using the bacterial inhibition assays developed… Expand
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Highly Cited
1999
Highly Cited
1999
We have developed a personal computer-based system designed for automated metabolic profiling of urinary organic acids by gas… Expand
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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… Expand
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Highly Cited
1994
Highly Cited
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… Expand
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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… Expand
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