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all cases confirmed diagnosis of Gaucher disease type 3 recieving enzyme replacement therapy at Assiut university hospital
evaluate cardiac involvement in a group of GD type 3 patients, evaluate pulmonary hypertension and valvular involvement, compare the findings of basic echo before the start of replacement therapy as well as with healthy controls, to assess the effects of enzyme replacement therpay on the cardiac function.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Gaucher type patients |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| echo | Diagnostic Test | echocardiographic |
|
| Measure | Description | Time Frame |
|---|---|---|
| Evaluate Pulmonary Hypertension (PH) in Egyptian GD Type 3 Patients | To assess the presence and severity of pulmonary hypertension using echocardiography. Unit of Measure: mmHg (for systolic pulmonary artery pressure) | 6 months |
| Evaluate Valvular Involvement in Egyptian GD Type 3 Patients | To assess the degree of valvular involvement, including stenosis or regurgitation, using echocardiography. Unit of Measure: Severity grading (mild, moderate, severe) | 6 months |
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Inclusion Criteria:
Exclusion Criteria:
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gaucher diseease type 3
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Ahmed Mohammed Mohammed | Asyut | Egypt |
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| ID | Term |
|---|---|
| D005776 | Gaucher Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D059552 | Caves |
| ID | Term |
|---|---|
| D055593 | Geological Phenomena |
| D055585 | Physical Phenomena |
| D004777 | Environment |
| D055669 | Ecological and Environmental Phenomena |
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| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D001686 | Biological Phenomena |
| D004778 | Environment and Public Health |