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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… 
National Institutes of Health

Related topics

Related topics

37 relations
Acidosis, LacticAcute encephalopathyAnemiaApnea

Narrower (2)

CoQ-responsive OXPHOS deficiencyPropionicaciduria

Broader (2)

Enzyme DeficiencyHyperglycinemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2002
Highly Cited
2002
Asymmetric total synthesis of spongistatins 1 and 2.
The total synthesis of spongistatin 1 (1) and spongistatin 2 (2) has been achieved through an advanced-stage intermediate. The… 
Highly Cited
2001
Highly Cited
2001
Rapid Diagnosis of Methylmalonic and Propionic Aci- Demias: Quantitative Tandem Mass Spectrometric Anal- Ysis of Propionylcarnitine in Filter-paper Blood Speci- Mens Obtained from Newborns
homocysteine metabolism or whether increased tHcy may be attributable to impaired renal function or higher prevalence of other… 
Highly Cited
1987
Highly Cited
1987
Enzyme-linked synthetic oligonucleotide probes: non-radioactive detection of enterotoxigenic Escherichia coli in faecal specimens
Synthetic oligonucleotides, complementary to unique sequences in the heat stable enterotoxin gene of Escherichia coli specific… 
Highly Cited
1982
Highly Cited
1982
Purification of low-abundance messenger RNAs from rat liver by polysome immunoadsorption.
We have purified three low-abundance hepatic mRNAs to near homogeneity by polysome immunoadsorption. The mRNAs coding for the… 
Highly Cited
1979
Highly Cited
1979
An avidin monomer affinity column for the purification of biotin-containing enzymes.
Highly Cited
1972
Highly Cited
1972
On the mode of action of hypoglycin A. 3. Isolation and identification of cis-4-decene-1,10-dioic, cis, cis-4,7-decadiene-1,10-dioic, cis-4-octene-1,8-dioic, glutaric, and adipic acids, N…
Highly Cited
1969
Highly Cited
1969
Defective propionate carboxylation in ketotic hyperglycinaemia.
Highly Cited
1961
Highly Cited
1961
Metabolism of propionic acid in animal tissues. VIII. Crystalline propionyl carboxylase.
Highly Cited
1953
Highly Cited
1953
Choline acetylase specificity in relation to biological function.
Highly Cited
1951
Highly Cited
1951
Degradation of labeled propionic and acetic acids.
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