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
healthcare
gene expression
pregnant women
adipose tissue
copy number
dna methylation
insulin resistance
skeletal muscle
pregnancy outcomes
artificial intelligence