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Propionic acidemia

Known as: Propionyl-CoA carboxylase deficiency, Hyperglycinemia With Ketoacidosis And Leukopenia, Propionic Acidemia [Disease/Finding] 
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and… Expand
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Highly Cited
2013
Highly Cited
2013
Background— Patients experiencing major bleeding while taking vitamin K antagonists require rapid vitamin K antagonist reversal… Expand
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Highly Cited
2009
Highly Cited
2009
Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the… Expand
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Highly Cited
2007
Highly Cited
2007
The positively charged lysine residue plays an important role in protein folding and functions. Neutralization of the charge… Expand
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Highly Cited
2006
Highly Cited
2006
Central nervous system myelin is a specialized structure produced by oligodendrocytes that ensheaths axons, allowing rapid and… Expand
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Review
2006
Review
2006
Methylmalonic and propionic aciduria (PA) are the most frequent forms of branched-chain organic acidurias. These autosomal… Expand
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Highly Cited
2005
Highly Cited
2005
Background: The aim of the study was to investigate the effects of probiotics on moderate or severe atopic dermatitis (AD) in… Expand
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Highly Cited
2002
Highly Cited
2002
ABSTRACT In gram-negative bacterial pathogens, such as Pseudomonas aeruginosa and Yersinia pseudotuberculosis, cell-to-cell… Expand
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Highly Cited
2001
Highly Cited
2001
How do drugs of abuse modify neural circuitry and thereby lead to addictive behaviour? As for many forms of experience-dependent… Expand
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Highly Cited
2001
Highly Cited
2001
In this report, we compared total and protein-bound thiol levels in the hippocampus and cerebellum of six Alzheimer's disease (AD… Expand
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