This journal publishes research on inherited metabolic disorders, including phenylketonuria (PKU), lysosomal storage diseases like Fabry disease and Niemann-Pick disease, mitochondrial disorders, and other inborn errors of metabolism. Studies investigate genetic variants, clinical manifestations, diagnostic approaches, and therapeutic interventions, including enzyme replacement therapy and novel drug treatments. The scope also encompasses the impact of these conditions and their treatments on quality of life and body composition.
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Publication & Citation Trend
Articles published
Times cited
2019
2020
2021
2022
2023
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2026
Source: OpenAlex · Note: citations accumulate over time so older years appear higher
SJR Quartile by Discipline
Scimago ranks this journal separately in each subject category — its quartile can differ by discipline.
EndocrinologyQ3
GeneticsQ3
Molecular BiologyQ3
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
GeneticsEndocrinologyMolecular Biology
Research Topics (OpenAlex)
Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchMitochondrial Function and PathologyGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implicationsFolate and B Vitamins ResearchGenomics and Rare DiseasesCarbohydrate Chemistry and SynthesisDiet and metabolism studiesBiochemical and Molecular Research