1.
J Pediatr
; 159(6): 1041-3.e2, 2011 Dec.
Article
in English
| MEDLINE
| ID: mdl-21920538
ABSTRACT
The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease. We identified a novel patient with a galactosyltransferase deficiency with mild hepatopathy and coagulation anomalies, but normal psychomotor development. The tissue-specific expression of the defective B4GALT1 gene correlated with the clinical phenotype.
Subject(s)
Congenital Disorders of Glycosylation/complications , Congenital Disorders of Glycosylation/genetics , Galactosyltransferases/genetics , Intestinal Diseases/genetics , Liver Diseases/genetics , Child , Female , Humans , Male , Phenotype
2.
Arq Neuropsiquiatr
; 66(2A): 288; author reply 288-9, 2008 Jun.
Article
in English
| MEDLINE
| ID: mdl-18545806
3.
Arq. neuropsiquiatr
; Arq. neuropsiquiatr;66(2a): 288-289, jun. 2008.
Article
in English
| LILACS
| ID: lil-484149