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Waisman Center
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University Center for Excellence in Developmental Disabilities
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  2. Newborn Screening

Newborn Screening

Translating molecular technologies into routine newborn screening practice.

Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation

Comparison methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

Cross-Sectional Survey on Newborn Screening in Wisconsin Amish and Mennonite Communities

WIC Participation as a Risk Factor for Loss to Follow-Up in the Wisconsin EHDI System

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  • Waisman Center
    1500 Highland Ave
    Madison, WI 53705
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  • Email: soetzel@wisc.edu

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