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Fatty acid oxidation defects

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2000-2016
0120002016

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2017
2017
Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects.
Fatty acid oxidation defects (FAOD) are one of the commonest metabolic liver diseases (MLDs) that can have varied presentations… (More)
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2017
2017
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis
BACKGROUND The aim of the present study was to establish a non-invasive, fast and robust enzymatic assay to confirm fatty acid… (More)
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2017
2017
Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure.
OBJECTIVES Fatty acid oxidation defects (FAODs) may underlie or modify the course of acute liver failure (ALF). Overall… (More)
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2016
2016
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the… (More)
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2009
2009
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
BACKGROUND The biochemical diagnosis of mitochondrial fatty acid oxidation defects (FAOD) currently rests on enzyme assays. A… (More)
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2000
2000
Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy
The spectrum of clinical presentation of fatty acid oxidation defects (FAOD) continues to expand. One FAOD, L-3-hydroxyacyl-CoA… (More)
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