基本信息
浏览量:0
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
个人简介
As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel therapies in patients. I also have an interest in neurometabolic disorders such as the creatine deficiency syndromes and sulfite oxidase and molybdenum cofactors. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine. Guanidinoacetate methyltransferase deficiency is a disorder that can be detected in the newborn period and is amenable to dietary therapy, and is thus a good candidate for newborn screening.
研究兴趣
论文共 98 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Molecular Genetics and Metabolismno. 4 (2024): 108286
Monika Williams,Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert,Dwight Koeberl,Sarah P. Young,Ashlee R. Stiles
MOLECULAR GENETICS AND METABOLISM REPORTS (2024): 101062-101062
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Genetics in Medicine Openno. 1 (2023): 100202-100202
Raymond Wang, Shinichi Kan,Haoyue Zhang,Jodi D. Smith, Ali Aminian,Elizabeth Snella,Jackie K. Jens,Sarah P. Young,Patricia Dickson,N. Matthew Ellinwood
Advances in cell and gene therapy (2023): 1-14
Pascale Tuyaa-Boustugue,Ingrid Jantzen,Haoyue Zhang,Sarah P. Young,Pierre Broqua,Mireille Tallandier,Eugeni Entchev
Molecular genetics and metabolism reports (2023): 101011-101011
American journal of medical genetics Part Ano. 9 (2023): 2300-2311
Akos Herzeg,Beltran Borges,Billie R. Lianoglou,Juan Gonzalez-Velez,Emma Canepa, Dane Munar,Sarah P. Young,Deeksha Bali, Michel H. Gelb,Pranesh Chakraborty,Priya S. Kishnani,Paul Harmatz,
加载更多
作者统计
#Papers: 98
#Citation: 2700
H-Index: 30
G-Index: 51
Sociability: 6
Diversity: 3
Activity: 20
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn