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Article

First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.

The Journal of pediatrics - 1 Dec 2023

Fillman Toki, Matteson Jamie, Tang Hao, Mathur Deepika, Zahedi Rana, Sen Indranil, Bishop Tracey, Neogi Partha, Feuchtbaum Lisa, Olney Richard S, Sciortino Stanley

Abstract excerpt

OBJECTIVE: To report on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening (NBS) in the large and diverse state of California. STUDY DESIGN: The California Genetic Disease Screening Program began universal NBS for MPS I on August 29, 2018. The screening uses a 2-tiered approach: an α-L-iduronidase (IDUA) enzyme activity assay followed by DNA sequencing for variants in the IDUA gene....

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PMID: 37516270
DOI: 10.1016/j.jpeds.2023.113644

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