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Propionicaciduria

Known as: Aciduria, Propionic, Propionic Aciduria, Propionic Acidurias 
National Institutes of Health

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Propionic acidemia

Papers overview

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Review
2013
Review
2013
Clinical Spectrum of Propionic Acidaemia
Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with… 
2012
2012
Inborn Errors of Metabolism and Brain Involvement - 5 Years Experience from a Tertiary Care Center in South India
Inborn errors of metabolism (IEM) comprise a large group of more than 500 different rare genetic disorders. They arise due to… 
2012
2012
Clinical outcome of major organic acidemias – A three years follow-up study
Abstract The term "organic acidemia" or "organic aciduria" (OA) applies to inborn errors of metabolism (IEM) in which organic… 
2009
2009
Rate-dependent left bundle-branch block in a child with propionic aciduria.
In most cases, a left bundle-branch block pattern on an electrocardiogram is a postoperative phenomenon. Under rare circumstances… 
2008
2008
Outcome of organic acidurias in China.
From June 1998 to May 2007, 9566 urine samples were collected from patients with psychomotor deficits, seizures, vomiting and… 
2008
2008
Genotype and clinical features of Korean patients with methylmalonic aciduria and propionic aciduria
Purpose :Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino… 
2005
2005
Pitfalls in aminoacid and organic acid analysis: 3-Hydroxypropionic aciduria
Pitfalls in organic acid analysis can originate from inadequate methodology, analytical interferences, in vivo interactions and… 
2002
2002
[Diagnosis and follow up of 23 children with organic acidurias].
BACKGROUND Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl… 
2001
2001
Freqüência de acidurias orgânicas em pacientes brasileiros
1999
1999
Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy.
With the expansion of newborn screening to include many organic acidurias and fatty acid oxidation defects, effective therapies… 
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