基本信息
views: 1
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
Bio
Research Areas
Newborn screening
Inborn errors of metabolism
Fatty acid oxidation disorders
Mass Spectrometry
Aboriginal Health
Lysosomal storage disorders
Summary
Newborn screening is designed to identify infants with treatable rare disorders at birth in order to start therapies before the infants get sick. These disorders can lead to developmental disability, growth failure, liver disease, seizures, and even death if untreated. The investigation of potential new candidate disorders for screening, evaluation of new screening tests or improvement of existing methods, and the measurement of the long-term effectiveness of screening to improve health are all active aspects of my research.
We have a focus on disorders affecting the use of fats as an energy source and a variant of one of these disorders that is common to coastal BC First Nations. This variant is associated with an increased risk of infant death, but may also have benefits related to traditional diets.. Investigation of this variant will lead to a better understanding of its clinical impact and help to identify effective interventions.
Newborn screening
Inborn errors of metabolism
Fatty acid oxidation disorders
Mass Spectrometry
Aboriginal Health
Lysosomal storage disorders
Summary
Newborn screening is designed to identify infants with treatable rare disorders at birth in order to start therapies before the infants get sick. These disorders can lead to developmental disability, growth failure, liver disease, seizures, and even death if untreated. The investigation of potential new candidate disorders for screening, evaluation of new screening tests or improvement of existing methods, and the measurement of the long-term effectiveness of screening to improve health are all active aspects of my research.
We have a focus on disorders affecting the use of fats as an energy source and a variant of one of these disorders that is common to coastal BC First Nations. This variant is associated with an increased risk of infant death, but may also have benefits related to traditional diets.. Investigation of this variant will lead to a better understanding of its clinical impact and help to identify effective interventions.
Research Interests
Papers共 94 篇Author StatisticsCo-AuthorSimilar Experts
By YearBy Citation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
Mithili Mudilage,Tatiana Kalashnikova, Andrew Muranyi,Catherine Biggs,Graham Sinclair,Sneha Suresh, Georgina Martin, Nick Antonishyn,Tamar Rubin, Cherie Evans,Vy Kim,Kristin Kernohan,
Microbiology Spectrumno. 5 (2022)
Clinical biochemistry (2022): 81-86
Load More
Author Statistics
Co-Author
Co-Institution
D-Core
- 合作者
- 学生
- 导师
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn