1.
J Pediatr
; 147(6): 847-50, 2005 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16356445
RESUMO
We present the clinical, molecular, and biochemical diagnosis of a patient with congenital disorder of glycosylation (CDG)-Ih. We report significant brain dysfunction in this multisystem disease, further expanding its complex clinical spectrum.