Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses
This article is not publicly available. I was able to obtain institutional access to the full text, but am annotating the PubMed abstract so the details are available to everyone.
PMID:30903511
Gene: IDUA (and others)
Disease: MPS1 (and others)
Inheritance: Autosomal recessive