Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy.
Diogo
L
L
Hospital Pediátrico, Coimbra, Portugal.
Fineza
I
I
Canha
J
J
Borges
L
L
Cardoso
M L
ML
Vilarinho
L
L
D001921:Brain / Q000002:abnormalities*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male
D005977:Glutarates; C019417:alpha-hydroxyglutarate