Progress in Fabry disease / 国际儿科学杂志
International Journal of Pediatrics
; (6): 283-286, 2010.
Article
en Zh
| WPRIM
| ID: wpr-389811
Biblioteca responsable:
WPRO
ABSTRACT
Fabry disease is an inherited metabolic disease, resulting from a deficiency of the enzyme a-galactosidase A activity. Principal clinical manifestation of Fabry disease was limb pain episodes, angioceratoma, and progressive damage of heart,brain, kidney. Although Fabry disease cannot be cured at present,early diagnosis and enzyme replacement therapy can change the prognosis completely.
Texto completo:
1
Índice:
WPRIM
Tipo de estudio:
Screening_studies
Idioma:
Zh
Revista:
International Journal of Pediatrics
Año:
2010
Tipo del documento:
Article