Journal of Inherited Metabolic Disease
Springer Netherlands · Netherlands
Aims & Scope✦ Inferred from recent articles
The Journal of Inherited Metabolic Disease focuses on inherited metabolic disorders (IMDs), including those responsive to vitamin or coenzyme therapy, and defects in aminoacyl-tRNA synthetases. It covers lysosomal storage disorders such as Pompe disease, glycogen storage disease type Ib, mucopolysaccharidoses, Niemann-Pick disease, Fabry disease, alpha-mannosidosis, and sialidosis, as well as phenylketonuria, remethylation disorders, and Wilson disease. The journal also addresses diagnostic approaches, therapeutic interventions including enzyme replacement therapy and gene therapy, and the characterization of clinical phenotypes and biomarkers.
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