The Journal of pediatrics · 2019
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
СтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Burton Barbara K, Hoganson George E, Fleischer Julie, Grange Dorothy K, Braddock Stephen R, Hickey Rachel, Hitchins Lauren, Groepper Daniel, Christensen Katherine M, Kirby Amelia, Moody Conny, Shryock Heather, Ashbaugh Laura, Shao Rong, Basheeruddin Khaja
Аннотация
OBJECTIVES: To assess the outcome of population-based newborn screening for mucopolysaccharidosis type II (MPS II) during the first year of screening in Illinois.
STUDY DESIGN: Tandem mass spectrometry was used to measure iduronate-2-sulfatase (I2S) activity in dried blood spot specimens obtained from 162 000 infant samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.
RESULTS: One case of MPS II and 14 infants with pseudodeficiency for I2S were identified.
CONCLUSIONS: Newborn screening for MPS II by measurement of I2S enzyme activity was successfully integrated into the statewide newborn screening program in Illinois.
STUDY DESIGN: Tandem mass spectrometry was used to measure iduronate-2-sulfatase (I2S) activity in dried blood spot specimens obtained from 162 000 infant samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.
RESULTS: One case of MPS II and 14 infants with pseudodeficiency for I2S were identified.
CONCLUSIONS: Newborn screening for MPS II by measurement of I2S enzyme activity was successfully integrated into the statewide newborn screening program in Illinois.