A systematic review on the birth prevalence of metachromatic leukodystrophy.

Shun-Chiao ChangAurore BergamascoMélanie BonninTeigna Arredondo BisonóYola Moride

Published in: Orphanet journal of rare diseases (2024)

This review provides a foundation for further analysis of the regional epidemiology of MLD. Data gaps indicate the need for better global coverage, increased use of epidemiological measures (e.g. prevalence estimates) and more stratification of outcomes by clinical and genetic disease subtype.

Keyphrases

risk factors
electronic health record
genome wide
big data
healthcare
gene expression
gestational age
machine learning
copy number
metabolic syndrome
weight loss
preterm birth