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Protocol Number:
86-HG-0096
- Title:
Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders
- Number:
86-HG-0096
- Summary:
The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders.
There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient or inpatient basis in order to better characterize the clinical, genetic, and pathophysiological features of these disorders. Participants will be re-evaluated on an annual basis.
- Sponsoring Institute:
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National Human Genome Research Institute (NHGRI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
Participants must be found to have or be a carrier of a documented lysosomal storage disorder or be a family member of a documented proband.
- Special Instructions:
Currently Not Provided
- Keywords:
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Lysosomal Storage Disorders
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Variants
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Chemical Phenotype
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Proteins
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Genes
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Phenotype
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Mutations
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Parkinsonism
- Recruitment Keyword(s):
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None
- Condition(s):
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Gaucher's Disease
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Lysosomal Storage Disease
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Institute of Mental Health
- Contact(s):
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Patient Recruitment and Public Liaison Office
Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype?
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Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene
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Epidermal abnormalities resulting from severe glucocerebrosidase deficiency man aid in the early diagnosis of type 2 Gaucher disease
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 05/05/2009
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