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.
Genesis Medical Associates
Matthew Macken is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Macken is rated as an Advanced provider by MediFind in the treatment of Inborn Renal Aminoaciduria. His top areas of expertise are Seasonal Affective Disorder (SAD), Obesity, Gastroesophageal Reflux Disease (GERD), and Sinusitis.
Genesis Medical Associates
Scott Heyl is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Heyl is rated as an Advanced provider by MediFind in the treatment of Inborn Renal Aminoaciduria. His top areas of expertise are Seasonal Affective Disorder (SAD), Gardner-Diamond Syndrome, Autoerythrocyte Sensitivity, and Purpura.
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.