Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
Jimenez-Mallebrera
Cecilia
C
Nascimento
Andres
A
Cusi
Victoria
V
Corbera
Joan Ramon
JR
Rolland
Marie-Odile
MO
Froissart
Rosaline
R
Olivé
Montse
M
Ferrer
Isidro
I
Colomer
Jaume
J
D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics; D006010:Glycogen Storage Disease Type III / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital*; D018908:Muscle Weakness / Q000175:diagnosis* / Q000235:genetics; D052097:Quadriceps Muscle / Q000473:pathology
D015061:1,4-alpha-Glucan Branching Enzyme