AICA-ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long-term update on the first case.
J Inherit Metab Dis
; 43(6): 1254-1264, 2020 11.
Article
in En
| MEDLINE
| ID: mdl-32557644
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Congenital Abnormalities
/
Hydroxymethyl and Formyl Transferases
/
Epilepsy
/
Intellectual Disability
/
Multienzyme Complexes
/
Nucleotide Deaminases
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
J Inherit Metab Dis
Year:
2020
Document type:
Article
Affiliation country:
France