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ERIC Number: EJ1014646
Record Type: Journal
Publication Date: 2013-Jun
Pages: 7
Abstractor: As Provided
ISSN: ISSN-1940-5510
Newborn Screening for Lysosomal Storage Disorders and Other Neuronopathic Conditions
Matern, Dietrich; Oglesbee, Devin; Tortorelli, Silvia
Developmental Disabilities Research Reviews, v17 n3 p247-253 Jun 2013
Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia. (Contains 2 tables and 1 figure.)
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Publication Type: Journal Articles; Reports - Descriptive
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A