Inborn Renal AminoaciduriaSymptoms, Doctors, Treatments, Advances & More
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.
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David Goldfarb is a Nephrologist practicing medicine in New York, New York. Dr. Goldfarb is rated as an Elite provider by MediFind in the treatment of Inborn Renal Aminoaciduria. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Kidney Stones, Inborn Renal Aminoaciduria, Primary Hyperoxaluria, Kidney Transplant, and Ureteroscopy.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
. Dr. Arnold is rated as an Advanced provider by MediFind in the treatment of Inborn Renal Aminoaciduria. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.
Northwell Health Physician Partners Kidney And Hypertension Specialists At Great Neck
Deepa Malieckal is a Nephrologist practicing medicine in Great Neck, New York. Dr. Malieckal is rated as an Advanced provider by MediFind in the treatment of Inborn Renal Aminoaciduria. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses End-Stage Renal Disease (ESRD), Inborn Renal Aminoaciduria, Acute Kidney Failure, and High Potassium Level.
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.
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.