Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Genet Med
; 19(2): 160-168, 2017 02.
Article
in En
| MEDLINE
| ID: mdl-27388694
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Glycoproteins
/
Developmental Disabilities
/
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Type of study:
Guideline
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Genet Med
Year:
2017
Document type:
Article