National Institutes of Health
- The primary NIH organization for research on Gaucher's Disease is the National Institute of Neurological Disorders and Stroke
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National Institutes of Health
Gaucher's Disease
Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.
There are three types:
- Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
- Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
- In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.
Gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.
NIH: National Institute of Neurological Disorders and Stroke
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Start Here
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Gaucher's Disease(National Institute of Neurological Disorders and Stroke)
- Short Summary
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Learning about Gaucher Disease(National Human Genome Research Institute)
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Gaucher's Disease
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Overviews
- Gaucher's Disease(Mayo Foundation for Medical Education and Research)
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Treatment
- FDA Approves Therapy to Treat Gaucher Disease(Food and Drug Administration)
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Related Issues
- How Do I Talk to My Family about Gaucher?(Genetic Alliance) - PDF
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke)
- Also available in Spanish
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Lipid Storage Diseases(National Institute of Neurological Disorders and Stroke)
- Short Summary
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Clinical Trials
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ClinicalTrials.gov: Gaucher Disease(National Institutes of Health)
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ClinicalTrials.gov: Gaucher Disease
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Genetics
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Genetics Home Reference: Gaucher disease(National Library of Medicine)
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Genetics Home Reference: Gaucher disease
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Research
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NIH Researchers Use Brain Imaging to Understand Genetic Link between Parkinson's and a Rare Disease(National Institute of Mental Health, National Human Genome Research Institute)
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Researching Disease: Dr. Roscoe Brady and Gaucher Disease(National Institutes of Health)
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NIH Researchers Use Brain Imaging to Understand Genetic Link between Parkinson's and a Rare Disease
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Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
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Directories
- Genetics Clinic Directory Search(University of Washington)
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Organizations
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National Institute of Neurological Disorders and Stroke
- Also available in Spanish
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National Institute of Neurological Disorders and Stroke
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Women
- Enzyme Replacement Therapy for Treatment of Gaucher Disease in Pregnancy and Breastfeeding(Organization of Teratology Information Specialists) - PDF
- Gaucher Disease in Pregnancy(Organization of Teratology Information Specialists) - PDF
- Miglustat (Zavesca) and Pregnancy(Organization of Teratology Information Specialists) - PDF
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Patient Handouts
- Gaucher disease
- Also available in Spanish
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You may also be interested in these related encyclopedia pages:
MEDICAL ENCYCLOPEDIA