Article

Experience of Newborn Gaucher Disease Screening in Samsun Province: A Single-Center Pilot Study

2026-06-05

Abstract excerpt

<title>Abstract</title> <p>Objective To evaluate the feasibility of enzymatic screening for Gaucher disease in newborns hospitalized in a tertiary Neonatal Intensive Care Unit (NICU) and to investigate GBA gene mutations in infants with reduced β-glucocerebrosidase activity. Methods This prospective single-center study included 107 newborns admitted to the NICU between August 2020 and January 2021. β-glucocereb...

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Literature Corpus work: 85c76914-c262-5ea6-bbd0-5d4ad37eda67
DOI: 10.21203/rs.3.rs-8980745/v1

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