The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations

Journal of Inherited Metabolic Disease

Volumn 23, Issue 1, 2000, Pages 77-82

  Maaswinkel Mooij, P ^a   Hollak, C ^b   Van Eysden Plaisier, M ^a   Prins, M ^b   Aerts, H ^b   Poll R ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; ENZYME THERAPY; FEMALE; FOLLOW UP; GAUCHER DISEASE; HUMAN; MALE; MUTATION; NETHERLANDS; PATIENT MONITORING; RACE DIFFERENCE; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; GAUCHER DISEASE; HUMANS; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES;

EID: 0033967982     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005655031239     Document Type: Article

References (9)

1. Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous administration of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87: 1913-1916.
2. Beutler E, Grabowski GA (1995) Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2641-2670.
3. Beutler E, Demina A, Laubscher K, et al (1995) The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells, Mol Dis 21: 86-106.
4. Boot RG, Hollak CE, Verhoek M, et al (1997) Glucocerebrosidase genotype of Gaucher patients in the Netherlands: limitations in prognostic value. Hum Mutat 10: 348-358.
5. Hollak CEM, Aerts JMFG, Goudsmit R, et al (1995) Individualised low-dose alglucerase therapy for type 1 Gaucher's disease. Lancet 345: 1474-1478.
6. Ida H, Rennert OM, Ito T, Maekawa K, Yoshikatsu E (1998) Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood cells, Mol Dis 24: 73-81.
7. Niederau C, Brikhahn A, Ehlen C, Haussinger D (1996) Facts and fiction of modern diagnosis of type 1 Gaucher disease: the German experience. Gaucher Clin Perspect 4: 5-13.
8. Poll RG, van den Hark ACBM (1991) Orthopedic problems in Dutch Gaucher patients. Acta Orthop Scand 62 (supplement 246): 31.
9. Zimran A, Kay A, Gelbart T, et al (1992) Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 71: 337-353.