Two cases of Fabry disease identified in brothers / 소아과
Korean Journal of Pediatrics
;
: 235-238, 2010.
Artículo
en Inglés
| WPRIM
| ID: wpr-125470
ABSTRACT
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Hermanos
/
Terapia de Reemplazo Enzimático
Límite:
Niño
/
Humanos
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2010
Tipo del documento:
Artículo
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