Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases.

Published in: Journal of personalized medicine (2023)

Advances in DNA sequencing technologies are revealing a vast genetic heterogeneity in human population, which may predispose to metabolic alterations if the activity of metabolic enzymes is affected [...].

Keyphrases

single cell
endothelial cells
single molecule
circulating tumor
cell free
induced pluripotent stem cells
dna methylation
copy number
nucleic acid