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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

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Highly Cited
1985
Highly Cited
1985
Bonding of restorative resins to dentine promoted by aqueous mixtures of aldehydes and active monomers.
Effective bonding between restorative resins and hard dental tissues would eliminate the need for retentive undercuts and prevent… 
1985
1985
Distribution and degradation of biotin-containing carboxylases in human cell lines.
Incubation of cultured cells with [3H]biotin leads to the labelling of acetyl-CoA carboxylase, pyruvate carboxylase, propionyl… 
1982
1982
CYSTINOTIC AND NORMAL FIBROBLASTS: DIFFERENTIAL PROTECTION IN CYSTINE-FREE MEDIUM BY DITHIOTHREITOL
Summary: We studied survival of normal (n=4) and cystinotic (n=3) fibroblast strains in selective (cystine-free) medium, with or… 
1981
1981
Pathway of formation of branched-chain volatile fatty acids in Ascaris mitochondria.
Disrupted Ascaris mitochondria formed 2-methylbutyrate (2-MB) and 2-methylvalerate (2-MV) when incubated anaerobically with… 
1980
1980
Metabolic regulation in tylosin-producing Streptomyces fradiae: regulatory role of adenylate nucleotide pool and enzymes involved in biosynthesis of tylonolide precursors
The relationship was studied between the level of the intracellular adenylates and the biosynthesis of tylosin by Streptomyces… 
1976
1976
Magnetic resonance studies of the proximity and spatial arrangement of propionyl coenzyme A and pyruvate on a biotin-metalloenzyme, transcarboxylase.
A spin-labeled ester of CoA, R-CoA (3-carboxy-2,2,5,5-tetramethyl-1-pyrolidinyl-1-oxy CoA thioester), has been shown by… 
1976
1976
Hydrogen ion titration of horse heart ferricytochrome c.
Continuous hydrogen ion titration curves of deionized solutions of horse heart ferricytochrome c have been obtained at 25 degrees… 
1972
1972
Serum protein binding of erythromycin and erythromycin 2'-propionate ester.
Human serum and tissue concentrations are reported after oral administration of erythromycin stearate and propionyl erythromycin… 
1962
1962
HEPATIC DYSFUNCTION ASSOCIATED WITH TRIACETYLOLEANDOMYCIN AND PROPIONYL ERYTHROMYCIN ESTER LAURYL SULFATE
Highly Cited
1961
Highly Cited
1961
Metabolism of propionic acid in animal tissues. VIII. Crystalline propionyl carboxylase.