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| ID | Type | Description | Link |
|---|---|---|---|
| UCSD-012 |
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| Name | Class |
|---|---|
| University of California, San Diego | OTHER |
OBJECTIVES:
I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
PROTOCOL OUTLINE:
Patients receive a clinical and biochemical evaluation, including a psychometric assessment and molecular, renal, and thyroid studies.
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| Name | Affiliation | Role |
|---|---|---|
| Jerry A. Schneider | University of California, San Diego | Study Chair |
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| ID | Term |
|---|---|
| D003554 | Cystinosis |
| D005198 | Fanconi Syndrome |
| D035583 | Rare Diseases |
| D000091642 | Urogenital Diseases |
| ID | Term |
|---|---|
| D016464 | Lysosomal Storage Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D015499 | Renal Tubular Transport, Inborn Errors |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D052801 | Male Urogenital Diseases |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |