基本信息
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职业迁徙
个人简介
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.
研究兴趣
论文共 54 篇作者统计合作学者相似作者
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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)
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Clinical biochemistry (2022): 81-86
Current Developments in Nutritionno. Supplement_2 (2020): 1839-1839
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