Gaucher's disease - An exemplary monogenic disorder

QJM: An International Journal of Medicine

Volumn 94, Issue 8, 2001, Pages 399-402

  Cox, T M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALGLUCERASE; BETA GLUCOSIDASE; GLUCOSYLCERAMIDASE; IMIGLUCERASE;

CLINICAL FEATURE; CYANOSIS; DISEASE CLASSIFICATION; EDITORIAL; ENZYME DEFICIENCY; ENZYME THERAPY; GAUCHER DISEASE; GENE MUTATION; HEPATOPULMONARY SYNDROME; HUMAN; LUNG ARTERIOVENOUS SHUNT; LUNG DISEASE; LUNG FIBROSIS; LUNG INFILTRATE; LYSOSOME STORAGE DISEASE; MACROPHAGE; MEDICAL RESEARCH; MOLECULAR GENETICS; MONOGENIC DISORDER; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PULMONARY HYPERTENSION;

EID: 0034893603     PISSN: 14602725     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Editorial

References (9)

1. Gaucher Disease
2. From cytases to lysosomes
3. Hunter and Hurler syndromes: Mutual correction of the defect in cultured fibroblasts
4. Gaucher's disease: Past, present and future
5. Therapeutic delivery of proteins to macrophages: Implications for treatment of Gaucher's disease
6. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
7. A novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
8. Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K
9. The phagosome proteome: Insight into phagosome functions