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