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The objective of this study is to determine the frequency of Lysosomal Acid Lipase Deficiency (LAL D) by lysosomal acid lipase (LAL) enzyme activity assay in patients who are considered to be at risk.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| At risk population |
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| Measure | Description | Time Frame |
|---|---|---|
| LAL D frequency based on LAL enzyme assay. | The endpoint of this study is the frequency of LAL D in at-risk patients, based on results from the LAL enzyme assay. | approximately 1 month |
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Inclusion Criteria:
Also, patient must meet the following:
Exclusion Criteria:
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Patients >2 years of age who are at risk for a diagnosis of LAL D
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Birmingham | Alabama | United States | ||||
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| Phoenix |
| Arizona |
| United States |
| Los Angeles | California | United States |
| San Francisco | California | United States |
| Gainesville | Florida | United States |
| Jacksonville | Florida | United States |
| Miami | Florida | United States |
| New Orleans | Louisiana | United States |
| Minneapolis | Minnesota | United States |
| The Bronx | New York | United States |
| Durham | North Carolina | United States |
| Oklahoma City | Oklahoma | United States |
| Portland | Oregon | United States |
| Houston | Texas | United States |
| San Antonio | Texas | United States |
| ID | Term |
|---|---|
| D015223 | Wolman Disease |
| D065626 | Non-alcoholic Fatty Liver Disease |
| D006938 | Hyperlipoproteinemia Type II |
| ID | Term |
|---|---|
| D015217 | Cholesterol Ester Storage Disease |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D007232 | Infant, Newborn, Diseases |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D005234 | Fatty Liver |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D006951 | Hyperlipoproteinemias |
| D006949 | Hyperlipidemias |
| D050171 | Dyslipidemias |
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