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Recruiting
Rare Kidney Stone Consortium Biobank
NCT02026388
- Conditions
- APRT Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +21 more
- Locations
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- Mayo Clinic Rochester, Minnesota, United States
NCT00588562
- Conditions
- APRT Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +19 more
- Locations
-
- Dent Disease Registry -Mayo Clinic Rochester, Minnesota, United States
- Primary Hyperoxaluria Registry - Mayo Clinic Rochester, Minnesota, United States
- Cystinuria Registry - New York University New York, United States
- APRT Registry - Landspitali Universtiy Hospital Reykjavik, Iceland
Recruiting
Monogenic Kidney Stone - Genetic Testing
NCT03305835
- Conditions
- Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, +18 more
- Locations
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- Mayo Clinic Rochester, Minnesota, United States
NCT06092346
- Conditions
- ADA2 protein, human, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, +84 more
- Locations
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- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT02780297
- Conditions
- Abnormalities, Multiple, Adenine Phosphoribosyltransferase Deficiency, Adenine phosphoribosyltransferase deficiency, +28 more
- Locations
-
- University of Alabama @ Birmingham Birmingham, Alabama, United States
- Mayo Clinic Jacksonville Jacksonville, Florida, United States
- Children's Memorial Hospital Chicago, Illinois, United States
- Children's Hospital, Harvard Medical School Boston, Massachusetts, United States
Recruiting
National Registry of Rare Kidney Diseases
NCT06065852
- Conditions
- AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis, +207 more
- Locations
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- Zoe Plummer Bristol, South West, United Kingdom
NCT02752633
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, Adenine phosphoribosyltransferase deficiency
- Locations
-
- Landspitali - The National University Hospital of Iceland Reykjavik, Iceland
NCT02124395
- Conditions
- Adenine Phosphoribosyl Transferase Deficiency, Adenine phosphoribosyltransferase deficiency, Carbohydrate Metabolism, Inborn Errors, +19 more
- Locations
-
- Primary Hyperoxaluria and Dent Disease Registry - Mayo Clinic Rochester, Minnesota, United States
- New York University School of Medicine - Cystinuria Registry New York, United States
- APRT Registry - Landspitali Universtiy Hospital Reykjavik, Iceland
Active, Not Recruiting
Early Check: Expanded Screening in Newborns
NCT03655223
- Conditions
- 17 Alpha-Hydroxylase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, +456 more
- Locations
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- RTI International Research Triangle Park, North Carolina, United States