Slide 1CRRT for Metabolic Diseases in the Newborn and Child. Stefano Picca, MD. Division of Nephrology, Dialysis and Renal Transplantation. Bambino Gesù Pediatric Research…

1. A protein metabolism disorder where excess amino acids are present in the urine Primary aminoaciduria Secondary aminoaciduria Primary aminoaciduria is due to the enzyme…

1. INBORN ERROR SOF METABOLISM Stefano Picca, MD D ept.of Nephrologyand Urology, DialysisUnit “ Bambino Gesù” Pediatric Research Hospital ROMA, Italy 5th International…

Metabolic Medicine Metabolic Medicine Part one Hevi Pediatric Teaching Hospital 28-4-2013 Metabolic pathways The term metabolism refers to all biochemical processes and pathways…

Slide 1 1 Slide 2 Gene therapy 2 Slide 3 TREATMENT OF GENETIC DISEASE Many genetic disorders are characterized by progressive disability or chronic ill-health for which there…

UCD and OA Case Study in RRT in In Born Error of Metabolism Timothy E. Bunchman Pediatric Nephrology & Transplantation VCU School of Medicine [email protected] [email protected]…

Nessun titolo diapositiva RENAL REPLACEMENT THERAPY IN INBORN ERRORS OF METABOLISM Stefano Picca, MD Dept. of Nephrology and Urology, Dialysis Unit “Bambino Gesù” Pediatric…

Diagnosis and treatment of disorders of amino acid metabolism in autism Y.B. Grechanina «IF A DRUG FITS TO EVERYBODY, IT MEANS IT DOESN’T FIT TO ANYBODY». When AUTISM…

UCD and OA Case Study in RRT in In Born Error of Metabolism Timothy E. Bunchman Pediatric Nephrology & Transplantation VCU School of Medicine [email protected] [email protected]…

Long-term use of carglumic acid in methylmalonic aciduria, propionic aciduria and isovaleric aciduria in Italy: a qualitative survey5136 Abstract. – OBJECTIVE: Organic