CDG IIx with unusual phenotype.
J Inherit Metab Dis
; 27(1): 103-4, 2004.
Article
in En
| MEDLINE
| ID: mdl-15065572
ABSTRACT
Congenital disorders of glycosylation (CDG) are a group of genetic diseases characterized by defective protein glycosylation. N-glycosylation defects are divided into two groups (I and II). CDG group II (types IIa to IIe) refers to defects in the Golgi processing of protein-bound glycans. We report a patient with CDG IIx and an unusual phenotype.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Proteinuria
/
Psychomotor Performance
/
Carbohydrate Metabolism, Inborn Errors
/
Creatine Kinase
/
Face
/
Anemia, Hemolytic
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
J Inherit Metab Dis
Year:
2004
Document type:
Article
Affiliation country:
Francia