1.
An Pediatr (Barc)
; 68(3): 301-2, 2008 Mar.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-18358145
2.
An Esp Pediatr
; 54(3): 310-2, 2001 Mar.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-11262263
RESUMO
Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days. Enzyme replacement therapy was started at the age of 2months. We report the patient's evolution after 4years of treatment.
Assuntos
Doença de Gaucher/tratamento farmacológico , Doença de Gaucher/genética , Glucosilceramidase/uso terapêutico , Pré-Escolar , Genótipo , Humanos , Lactente , Masculino , Espanha
3.
An Esp Pediatr
; 44(1): 76-8, 1996 Jan.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-8849070
4.
An Esp Pediatr
; 38(2): 181-3, 1993 Feb.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-8439107