Conselho Médico

A Fundação Acidemia Propionic tem a honra de incluir o seguinte metabólica e especialistas genéticos em nosso Conselho Consultivo Médico:

Gerard T. Berry M.D., Hospital Infantil 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. Em 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 é professor de pediatria na Faculdade de Medicina Feinberg da Northwestern University e médico assistente na Divisão de Genética, Defeitos Congênitos e Metabolismo no Ann & Robert H. Lurie Children’s Hospital of Chicago. Ela é geneticista bioquímica certificada pelo Conselho e contribuiu com numerosos artigos para a literatura médica relacionados a erros inatos do metabolismo. Ela atua na pesquisa clínica e tem sido investigadora em muitos ensaios clínicos de novas terapias para distúrbios metabólicos.. In addition, ela atuou por muitos anos como presidente do Comitê Consultivo de Triagem Neonatal do Departamento de Illinois. de Saúde Pública. Dr.. Burton está particularmente interessado em educar os médicos sobre o reconhecimento dos primeiros sintomas de distúrbios metabólicos.

 

William Nyhan, M.D., PH.D., UCSD School of Medicine, La Jolla, California 2003- apresentar

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. Sua dedicação ao campo de metabólitos tem sido um grande valor para o 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)