[Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Cérédase)].
Gaucher's disease is caused by a deficiency of glucocerebrosidase. Enzyme replacement therapy with glucocerebrosidase (Ceredase) is available in France since 1991. We report the clinical effectiveness in a woman with type 1 Gaucher's disease treated with the enzyme for one year. Hepatomegaly regressed, bone pain decreased but improvement of severe skeletal manifestations were slow and incomplete.
Belmatoug
N
N
Service de médecine interne du Pr C Carbon, Paris.
Azorin
M
M
Huten
D
D
de Villemeur
T B
TB
Carbon
C
C
D005260:Female; D005776:Gaucher Disease / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D008875:Middle Aged
D005962:Glucosylceramidase
Evolution d'une maladie de Gaucher de type 1 traitée pendant un an par la glucocerébrosidase (Cérédase).