Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
Cecilia
C
Jimenez-Mallebrera
Andres
A
Nascimento
Victoria
V
Cusi
Joan Ramon
JR
Corbera
Marie-Odile
MO
Rolland
Rosaline
R
Froissart
Montse
M
Olivé
Isidro
I
Ferrer
Jaume
J
Colomer
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