@article{004d7abc59e547ce9691c624555eb377,
title = "Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience",
abstract = "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.",
keywords = "iduronate-2-sulfatase, pseudodeficiency",
author = "Burton, {Barbara K.} and Hoganson, {George E.} and Julie Fleischer and Grange, {Dorothy K.} and Braddock, {Stephen R.} and Rachel Hickey and Lauren Hitchins and Daniel Groepper and Christensen, {Katherine M.} and Amelia Kirby and Conny Moody and Heather Shryock and Laura Ashbaugh and Rong Shao and Khaja Basheeruddin",
note = "Funding Information: Supported by Shire Human Genetic Therapies Inc, Lexington, MA (a member of the Takeda group of companies) (IIR-USA-002083 [to B.B.]. Shire was not involved in the study design, collection, analysis, interpretation of the data, the writing of the report, or the decision to submit the paper for publication. B.B. has received consulting fees, clinical trial funding, personal fees, grants, from Takeda (Shire); personal fees from Biomarin; personal fees from Sanofi Genzyme; personal fees from Alexion; personal fees from Ultragenyx; other from Sangamo; personal fees from JCR Pharma; personal fees from Chiesi; personal fees from Moderna; personal fees from Horizon Pharma; and personal fees from Denali. G.H. has received grants from the Illinois Department of Public Health. L.H. has received personal fees from Shire/Takeda and personal fees from Sanofi Genzyme. The other authors declare no conflicts of interest. Funding and disclosure information is available atwww.jpeds.com. Funding Information: Supported by Shire Human Genetic Therapies Inc , Lexington, MA (a member of the Takeda group of companies) (IIR- USA-002083 [to B.B.]. Shire was not involved in the study design, collection, analysis, interpretation of the data, the writing of the report, or the decision to submit the paper for publication. B.B. has received consulting fees, clinical trial funding, personal fees, grants, from Takeda (Shire); personal fees from Biomarin; personal fees from Sanofi Genzyme; personal fees from Alexion; personal fees from Ultragenyx; other from Sangamo; personal fees from JCR Pharma; personal fees from Chiesi; personal fees from Moderna; personal fees from Horizon Pharma; and personal fees from Denali. G.H. has received grants from the Illinois Department of Public Health. L.H. has received personal fees from Shire/Takeda and personal fees from Sanofi Genzyme. The other authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2019 Elsevier Inc.",
year = "2019",
month = nov,
doi = "10.1016/j.jpeds.2019.07.053",
language = "English",
volume = "214",
pages = "165--167.e1",
journal = "Journal of Pediatrics",
issn = "0022-3476",
}