Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency
Overview
Affiliations
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys E J Inherit Metab Dis. 2006; 29(1):21-9.
PMID: 16601864 DOI: 10.1007/s10545-006-0317-9.
A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria.
Kohlschutter A, Behbehani A, Langenbeck U, Albani M, Heidemann P, Hoffmann G Eur J Pediatr. 1982; 138(1):32-7.
PMID: 7075624 DOI: 10.1007/BF00442325.
Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase.
Van Biervliet J, Duran M, WADMAN S, Koster J, VAN ROSSUM A J Inherit Metab Dis. 1980; 2(1):15-8.
PMID: 6796755 DOI: 10.1007/BF01805557.
Lactic acidosis due to pyruvate carboxylase deficiency.
Haworth J, Robinson B, Perry T J Inherit Metab Dis. 1981; 4(2):57-8.
PMID: 6790846 DOI: 10.1007/BF02263589.
Screening for organic acidurias and amino acidopathies in newborns and children.
Chalmers R, Purkiss P, Watts R, Lawson A J Inherit Metab Dis. 1980; 3(2):27-43.
PMID: 6777599 DOI: 10.1007/BF02312520.