Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
J Pediatr
; 145(5): 705-9, 2004 Nov.
Article
em En
| 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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo IV
/
Enzima Ramificadora de 1,4-alfa-Glucana
/
Mutação
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2004
Tipo de documento:
Article
País de afiliação:
Áustria