Ribes, A
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. [electronic resource]
- Journal of inherited metabolic disease 1993
- 537-40 p. digital
Publication Type: Case Reports; Journal Article
0141-8955
10.1007/BF00711675 doi
Acids--blood
Adrenal Insufficiency--genetics
Amino Acids--blood
Blotting, Southern
Citric Acid Cycle--physiology
Corneal Opacity--genetics
DNA, Mitochondrial--analysis
Energy Metabolism--physiology
Humans
Infant
Male
Metabolism, Inborn Errors--genetics
Syndrome
Urea--metabolism