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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1938-2017
05010019382016

Papers overview

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2011
2011
Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on… (More)
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2009
2009
PURPOSE To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia… (More)
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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… (More)
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2004
2004
Propionic acidemia (PA) is one of the most frequent organic acidurias, but information on the outcome of individuals with PA is… (More)
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Highly Cited
2002
Highly Cited
2002
In gram-negative bacterial pathogens, such as Pseudomonas aeruginosa and Yersinia pseudotuberculosis, cell-to-cell communication… (More)
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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… (More)
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1999
1999
BACKGROUND Patients with propionic acidemia usually present in the neonatal period with life-threatening ketoacidosis, often… (More)
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1995
1995
An 8-year-old girl with propionic acidemia had acute and rapidly fatal symmetric necrosis of the caudate, globus pallidus, and… (More)
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1994
1994
The files of 25 patients with propionic acidemia (PA), followed by the Inborn Errors of Metabolism Service (IEMS) at King Faisal… (More)
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1984
1984
Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with… (More)
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