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| Report on a Technology Assessment Conference evaluating the diagnosis and treatment of Gaucher disease. Screening, genetic counselling, and management are covered, as is the natural history of the disease, roles of current molecular and enzymatic assays, appropriate modes of therapy, goals for and consequences of treatment, genotype/phenotype correlation usage and appropriate directions for future research.
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A guide for patients, parents, relatives, and friends. History, typicalities, diagnosis, and treatments are considered.
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The NINDS offers news, coordinates events, and conducts research into disorders of the brain and nervous system. Also provides information about specific conditions such as Alzheimer's disease, autism, cerebral palsy, epilepsy, and Parkinson's, together with details of associated organisations and publications.
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An advisory service for patients and families with Gaucher's disease. The service includes full clinical assessment of Gaucher's patients, advice on general medical and specialist needs e.g. pregnancy, surgical procedures, and patient review.
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Information about Gaucher disease, a lipid-storage disorder. Includes details of symptoms, prevalence, transmission, and therapy.
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Includes information such as phenotypes of gaucher disease, enzymatic diagnosis, molecular diagnosis, genotype/phenotype correlations, and genetic counselling.
| Introduction |
Information and support for doctors and patients with Gaucher disease (an inherited, enzyme deficiency disorder). Includes news, articles, and a list of regional associations.
| Introduction |
Range of information about Gaucher Disease, first described by Phillipe Gaucher in 1882. The major disease manifestations are due to the progressive storage of glucocerebroside in Gaucher cells in the bone marrow, spleen and liver. Gaucher cells in the bone marrow can cause bone and joint pain, fractures and other orthopedic problems.
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