Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities.
Ribes
A
A
Institut de Bioquímica Clínica, Diputació de Barcelona, Spain.
Riudor
E
E
Valcárel
R
R
Salvá
A
A
Castelló
F
F
Murillo
S
S
Dominguez
C
C
Rötig
A
A
Jakobs
C
C
D000143:Acids / Q000097:blood / Q000652:urine; D000309:Adrenal Insufficiency / Q000235:genetics / Q000378:metabolism*; D000596:Amino Acids / Q000097:blood / Q000652:urine; D015139:Blotting, Southern; D002952:Citric Acid Cycle / Q000502:physiology; D003318:Corneal Opacity / Q000235:genetics / Q000378:metabolism*; D004272:DNA, Mitochondrial / Q000032:analysis; D004734:Energy Metabolism / Q000502:physiology; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome; D014508:Urea / Q000378:metabolism
D000143:Acids; D000596:Amino Acids; D004272:DNA, Mitochondrial; D014508:Urea