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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 69 篇作者统计合作学者相似作者
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Sarah Young,Billie R. Lianoglou,Akos Herzeg, Beltran Borges, Pranesh Chakraborty,Deeksha Bali,Juan M. Gonzalez, Emma Canepa,Priya Kishnani,Jennifer L. Cohen, Paul Harmatz,Tippi C. MacKenzie
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Advances in cell and gene therapy (2023): 1-14
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MOLECULAR GENETICS AND METABOLISM REPORTS (2023): 101011-101011
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,
Eugeni Entchev,Sophie Antonelli,Virginie Mauro,Nicolas Cimbolini,Ingrid Jantzen, Aurelie Roussey, Jeanne-Marie Germain,Haoyue Zhang, Jean-Michel Luccarrini,Olivier Lacombe,Sarah P Young,Laurence Feraille,
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