1.
Rev Neurol
; 58(8): 382-3, 2014 Apr 16.
Article
in Spanish
| MEDLINE
| ID: mdl-24723181
ABSTRACT
TITLE: Enfermedad por deposito lisosomal con peculiaridades diferenciales: gangliosidosis GM1 tipo II.
Subject(s)
Gangliosidosis, GM1/diagnosis , Abnormalities, Multiple/genetics , Cells, Cultured , Child , Codon, Nonsense , Female , Fibroblasts/enzymology , Fibroblasts/ultrastructure , Gangliosidosis, GM1/genetics , Gangliosidosis, GM1/pathology , Heterozygote , Humans , Lysosomes/enzymology , Lysosomes/ultrastructure , Mutagenesis, Insertional , Mutation, Missense , Phenotype , Psychomotor Disorders/genetics , beta-Galactosidase/genetics
2.
Rev. neurol. (Ed. impr.)
; 58(8): 382-383, 16 abr., 2014.
Article
in Spanish
| IBECS
| ID: ibc-119787
ABSTRACT
No disponible