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Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review

A systematic literature review was conducted to evaluate the emerging evidence on newborn screening (NBS) for metachromatic leukodystrophy (MLD; MIM #250100). The review focuses on (1) screening assay performance, (2) diagnostic confirmation methods and care pathways, (3) feasibility of population-b...

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Principais autores: Lucia Laugwitz, Andrew Shenker, Erica F. Sluys, Stéphane Pintat, David Whiteman, Charlotte Chanson
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2025-11-01
Serier:International Journal of Neonatal Screening
Fag:
newborn screening
metachromatic leukodystrophy
systematic literature review
Online adgang:https://www.mdpi.com/2409-515X/11/4/103
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