A new case of succinyl-CoA: acetoacetate transferase deficiency.
Pérez-Cerdá
C
C
Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma, Madrid, Spain.
Merinero
B
B
Sanz
P
P
Jiménez
A
A
Hernández
C
C
García
M J
MJ
Ugarte
M
M
D000138:Acidosis / Q000209:etiology; D001786:Blood Glucose / Q000378:metabolism; D002478:Cells, Cultured; D015256:Coenzyme A-Transferases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D007657:Ketone Bodies / Q000097:blood / Q000652:urine; D007773:Lactates / Q000097:blood; D019344:Lactic Acid
D001786:Blood Glucose; D007657:Ketone Bodies; D007773:Lactates; D019344:Lactic Acid; D015256:Coenzyme A-Transferases; C021460:3-ketoacid CoA-transferase