Medical Consultativ

Fundația Acidemia propionic este onorată să includă următoarele metabolice și genetice specialiști în nostru Consiliul Medical Consultativ:

Gerard T. Berry M.D., Spitalul de Copii din Boston 2003-prezent

For over 20 ani, Dr. Berry has held major teaching and clinical positions in pediatrics and metabolism primarily at University Of Pennsylvania, CHOP, George Washington University and most recently at Children’s Hospital Boston. As a recognized expert in inborn errors of metabolism and endocrinology, Dr. Berry is the author of and invited lecturer on topics ranging from hyperammonemia, MSUD and galactosemia to metabolism of inositol in the brain. He has served as principal investigator for numerous research studies and has received numerous NIH grants for his work with galactosemia. Dr. Berry has been an active proponent of expanded newborn screening and serves on several advisory boards and international committees. În 2006, Dr. Berry joined Children’s Hospital Boston as the Director of the Metabolism Program.

Barbara K. Burton, Doctor în medicină, Northwestern University Medical School and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2003-present

Dr. Burton este profesor de pediatrie la Northwestern University Feinberg School of Medicine și medic curant în Divizia de Genetică, Defecte de naștere și metabolism la Ann & Robert H. Lurie Children’s Hospital of Chicago. She is a Board-certified biochemical geneticist and has contributed numerous articles to the medical literature related to inborn errors of metabolism She is active in clinical research and has been an investigator in many clinical trials of new therapies for metabolic disorders. În plus, she has served for many years as Chairman of the Newborn Screening Advisory Committee of the Illinois Dept. of Public Health. Dr. Burton is particularly interested in educating physicians on the recognition of early symptoms of metabolic disorders.

 

William Nyhan, Doctor în medicină, PH.D., UCSD Scoala de Medicina, La Jolla, California 2003- prezenta

Dr. William Nyhan is currently Professor of Pediatrics at UCSD School of Medicine in La Jolla, Ca. He has held appointments at University of Miami School of Medicine, Johns Hopkins University School of Medicine and has served on numerous pediatric advisory boards, advisory committees and research foundations. A lifetime of interests and areas of research span a wide variety of disorders of amino acid, organic acid and purine metabolism, including alkaptonuria, 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, propionic acidemia, and Lesch-Nyhan syndrome. Dr. Nyhan has studied the neuropathology of propionic acidemia including the manifestation of basal ganglia infarction and the neurologic non-metabolic presentation of PA. He is currently involved in the ongoing development of tandem mass spectrometry for use in diagnosis and research.

 

Thank you to our emeritus medical advisory board members. Devotamentul lor la domeniul de metabolics a fost o mare valoare pentru PAF.

Pinar Ozand, MD, Dr. (2003-2014)

Stuart K. Shapira, MD, Dr. (2003-2005)

James Leonard, Ph.D, FRCP (2003-2008)

Mendel Tuchman, MD (2003-2021)