Consejo Asesor Médico

La Fundación de Acidemia propiónica tiene el honor de incluir la siguiente metabólico y especialistas en genética en nuestro Consejo Asesor Médico:

Gerard T. Berry M.D., Hospital de Niños de Boston 2003-presente

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, Doctor de Medicina, Northwestern University Medical School and Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL 2003-present

Dr. Burton es profesor de pediatría en la Facultad de Medicina Feinberg de la Universidad Northwestern y médico adjunto en la División de Genética., Defectos de nacimiento y metabolismo en Ann & Robert H. Lurie Children’s Hospital of Chicago. Es genetista bioquímica certificada por la Junta y ha contribuido con numerosos artículos a la literatura médica relacionada con los errores congénitos del metabolismo. Participa activamente en la investigación clínica y ha sido investigadora en muchos ensayos clínicos de nuevas terapias para los trastornos metabólicos.. en adición, se ha desempeñado durante muchos años como Presidenta del Comité Asesor de Detección de Recién Nacidos del Departamento de Illinois. de Salud Publica. Dr. Burton está particularmente interesado en educar a los médicos sobre el reconocimiento de los primeros síntomas de los trastornos metabólicos..

William Nyhan, Doctor de Medicina, PH.D., UCSD Facultad de Medicina, La Jolla, California 2003- presentar

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. Su dedicación al campo de metabólicos ha sido un gran valor para el PAF.

Pinar Ozand, Maryland, PhD (2003-2014)

Stuart K. Shapira, Maryland, PhD (2003-2005)

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

Mendel Tuchman, Maryland (2003-2021)