Inborn Renal Aminoaciduria Overview
Learn About Inborn Renal Aminoaciduria
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However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
New York University
David Goldfarb is a Nephrologist in New York, New York. Dr. Goldfarb is rated as an Elite provider by MediFind in the treatment of Inborn Renal Aminoaciduria. His top areas of expertise are Kidney Stones, Inborn Renal Aminoaciduria, Primary Hyperoxaluria, Kidney Transplant, and Ureteroscopy.
Vineta Fellman practices in Helsinki, Finland. Ms. Fellman is rated as a Distinguished expert by MediFind in the treatment of Inborn Renal Aminoaciduria. Her top areas of expertise are Coenzyme Q Cytochrome C Reductase Deficiency, Gracile Syndrome, Inborn Renal Aminoaciduria, and Premature Infant.
Eskil Elmer practices in Lund, Sweden. Mr. Elmer is rated as a Distinguished expert by MediFind in the treatment of Inborn Renal Aminoaciduria. His top areas of expertise are Gracile Syndrome, Inborn Renal Aminoaciduria, Hemosiderosis, Coronary Artery Bypass Graft (CABG), and Heart Bypass Surgery.
Summary: This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
Summary: This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease. This study will help researchers determine the characteristics of the stone disease associated with specific genes and mutations. This information may help develop more effective treatments for monogenic kidney stone diseases.