医学顾问委员会

丙酸血症基金会很荣幸在我们的医学顾问委员会包括以下的代谢和遗传专家:

杰拉德Ţ. Berry M.D., 波士顿儿童医院2003年至今

For over 20 years, 博士. 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, 博士. 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. 博士. Berry has been an active proponent of expanded newborn screening and serves on several advisory boards and international committees. 在 2006, 博士. Berry joined Children’s Hospital Boston as the Director of the Metabolism Program.

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

博士. Burton 是西北大学 Feinberg 医学院儿科教授和遗传学系的主治医师, 安的出生缺陷和新陈代谢 & Robert H. Lurie Children’s Hospital of Chicago. 她是一名获得董事会认证的生化遗传学家，并为与先天性代谢错误相关的医学文献贡献了许多文章。她积极参与临床研究，并在许多代谢紊乱新疗法的临床试验中担任研究员. 此外, 她曾担任伊利诺伊州新生儿筛查咨询委员会主席多年. 公共卫生部. 博士. 伯顿对教育医生识别代谢紊乱的早期症状特别感兴趣.

 

威廉·奈恩, 医学博士, PH.D., 加州大学圣地亚哥分校医学院, 拉霍亚, California 2003- 目前

博士. 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. 博士. 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. 他们的奉献精神领域的新陈代谢是一个很有价值的PAF.

Pinar Ozand, MD, 博士 (2003-2014)

斯图尔特K表. 沙皮拉, MD, 博士 (2003-2005)

James Leonard, 博士, FRCP (2003-2008)

孟德尔塔奇曼, MD (2003-2021)