Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Cerone
R
R
University Department of Pediatrics, G. Gaslini Institute, Genova, Italy.
Schiaffino
M C
MC
Caruso
U
U
Lupino
S
S
Gatti
R
R
D000015:Abnormalities, Multiple; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D006712:Homocystinuria / Q000150:complications*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D008764:Methylmalonic Acid / Q000378:metabolism* / Q000652:urine; D014805:Vitamin B 12 / Q000378:metabolism*
D008764:Methylmalonic Acid; D014805:Vitamin B 12