Conseil consultatif médical
La Fondation acidémie propionique est honoré d'inclure le suivant métabolique et spécialistes en génétique dans notre conseil consultatif médical:
Gerard T. Berry M.D., Hôpital pour enfants de Boston de 2003 à aujourd'hui
For over 20 years, 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. En 2006, Dr. Berry joined Children’s Hospital Boston as the Director of the Metabolism Program.
Barbara K. Burton, M.D., Northwestern University Medical School and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2003-present
Dr. Burton est professeur de pédiatrie à la Northwestern University Feinberg School of Medicine et médecin traitant à la division de génétique, Malformations congénitales et métabolisme à l'Ann & Robert H. Lurie Children’s Hospital of Chicago. Elle est généticienne biochimique certifiée et a rédigé de nombreux articles dans la littérature médicale liés aux erreurs innées du métabolisme. Elle est active dans la recherche clinique et a été chercheuse dans de nombreux essais cliniques de nouvelles thérapies pour les troubles métaboliques.. en outre, elle a été pendant de nombreuses années présidente du comité consultatif sur le dépistage néonatal du département de l'Illinois.. de la Santé Publique. Dr. Burton s'intéresse particulièrement à la formation des médecins sur la reconnaissance des premiers symptômes des troubles métaboliques..
William Nyhan, M.D., PH.D., UCSD School of Medicine, La Jolla, California 2003- présenter
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. Leur dévouement dans le domaine de metabolics a été une grande valeur à la PAF.
Pinar Ozand, MD, PhD (2003-2014)
Stuart K. Shapira, MD, PhD (2003-2005)
James Leonard, Ph.D, FRCP (2003-2008)
Mendel Tuchman, MD (2003-2021)