Медицинская библиотека · The Journal of pediatrics · 2019

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.

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

СтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАПеревод в очереди

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.

Для цитирования: 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. Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.. The Journal of pediatrics. 2019. DOI: 10.1016/j.jpeds.2019.07.053.

Предметные рубрики MeSH

Biomarkers Dried Blood Spot Testing Follow-Up Studies Humans Iduronic Acid Illinois Incidence Infant, Newborn Mucopolysaccharidosis II Neonatal Screening Reproducibility of Results Retrospective Studies Tandem Mass Spectrometry Time Factors

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