Pyruvate Decarboxylase Deficiency Overview
Learn About Pyruvate Decarboxylase Deficiency
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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.
Rosa Ferriero practices in Pozzuoli, Italy. Ms. Ferriero is rated as an Elite expert by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. Her top areas of expertise are Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Lactic Acidosis, and Maple Syrup Urine Disease.
Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. His top areas of expertise are Pyruvate Decarboxylase Deficiency, Argininosuccinic Aciduria, Rotor Syndrome, and Crigler-Najjar Syndrome.
University Of Pittsburgh Physicians
Jirair Bedoyan is a Medical Genetics specialist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Bedoyan is rated as an Elite provider by MediFind in the treatment of Pyruvate Decarboxylase Deficiency. His top areas of expertise are Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Urea Cycle Disorders (UCD), and Gastrostomy. Dr. Bedoyan is currently accepting new patients.
Summary: This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®). The trial will be conducted with three visits: 3 day hospitalizations including clinical consultations and paramedical procedures at Month 0 (M0), Month 3 (M3), Month 6 (M6). Duri...
Summary: Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these disorders. The research project involves completing a questionnaire about the individual or family's medical history and experiences with PDCD, review of medical records by...