This journal focuses on inherited metabolic disorders, including inborn errors of amino acid metabolism, lysosomal storage diseases, and mitochondrial diseases. Articles discuss clinical presentations, diagnostic challenges, treatment strategies, and patient outcomes, often involving rare genetic conditions. Research also covers the development and application of novel therapies and diagnostic methods for these disorders.
Based on the Think.Check.Submit framework by DOAJ, COPE & OASPA. All data from verified open sources.
Publication & Citation Trend
Articles published
Times cited
2019
2020
2021
2022
2023
2024
2025
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.
Biochemistry, Genetics and Molecular Biology (miscellaneous)Q2
Endocrinology, Diabetes and MetabolismQ3
Internal MedicineQ3
Subject Classification
Web of Science Categories
Endocrinology & MetabolismGenetics & Heredity
Scopus Categories
Biochemistry, Genetics and Molecular Biology (miscellaneous)Endocrinology, Diabetes and MetabolismInternal Medicine
Research Topics (OpenAlex)
Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchMitochondrial Function and PathologyFolate and B Vitamins ResearchGlycogen Storage Diseases and MyoclonusAmino Acid Enzymes and MetabolismNeonatal Health and BiochemistryBiochemical and Molecular ResearchDiet and metabolism studiesGenomics and Rare Diseases