Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

Cox-Brinkman, J; van Breemen, M J; van Maldegem, B T; Bour, L; Donker, W E; Hollak, C E M; Wijburg, F A; Aerts, J M F G

Cox-Brinkman, J; van Breemen, M J; van Maldegem, B T; Bour, L; Donker, W E; Hollak, C E M; Wijburg, F A; Aerts, J M F G.

Affiliation

Cox-Brinkman J; Department of Pediatrics, G8-205, Academic Medical Center, PO Box 22660, 1100 DD, Amsterdam, The Netherlands.

J Inherit Metab Dis ; 31(6): 745-52, 2008 Dec.

Article in En | MEDLINE | ID: mdl-18850301

Subject(s)

Enzyme Therapy; Gaucher Disease/diagnosis; Gaucher Disease/drug therapy; Chemokine CCL3/blood; Chemokine CCL3/cerebrospinal fluid; Chemokine CCL4/blood; Chemokine CCL4/cerebrospinal fluid; Child; Child, Preschool; Family Health; Female; Gaucher Disease/blood; Gaucher Disease/cerebrospinal fluid; Hexosaminidases/blood; Hexosaminidases/cerebrospinal fluid; Homozygote; Humans; Mutation; Time Factors; Treatment Outcome

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Full text: 1 Database: MEDLINE Main subject: Enzyme Therapy / Gaucher Disease Type of study: Observational_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans Language: En Year: 2008 Type: Article

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