1.
J Pediatr
; 145(5): 705-9, 2004 Nov.
Article
in English
| MEDLINE
| ID: mdl-15520786
ABSTRACT
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
Subject(s)
1,4-alpha-Glucan Branching Enzyme/genetics , Glycogen Storage Disease Type IV/genetics , Glycogen Storage Disease Type IV/pathology , Mutation , Female , Glycogen Storage Disease Type IV/complications , Humans , Infant, Newborn , Liver Diseases/etiology , Muscle, Skeletal/pathology , Muscle, Skeletal/ultrastructure , Neuromuscular Diseases/etiology
2.
In. Focaccia, Roberto. Tratado de hepatites virais. São Paulo, Atheneu, 2002. p.539-544, tab.
Monography
in Portuguese
| LILACS, Sec. Est. Saúde SP
| ID: lil-334862