This journal focuses on inherited metabolic disorders, including lysosomal storage diseases like cystinosis and GM1 gangliosidosis, and disorders affecting cofactor metabolism such as tetrahydrobiopterin (BH4) and coenzyme A deficiencies. Research investigates the clinical manifestations, biochemical abnormalities, and potential biomarkers for these conditions. Studies also explore the impact of these disorders on patient quality of life, including gastrointestinal symptoms and nutritional status.
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.
BiochemistryQ2
EndocrinologyQ2
Endocrinology, Diabetes and MetabolismQ2
GeneticsQ2
Molecular BiologyQ2
Subject Classification
Web of Science Categories
Endocrinology & MetabolismGenetics & HeredityMedicine, Research & Experimental
Scopus Categories
GeneticsBiochemistryEndocrinology, Diabetes and MetabolismEndocrinologyMolecular Biology
Research Topics (OpenAlex)
Lysosomal Storage Disorders ResearchMetabolism and Genetic DisordersGlycogen Storage Diseases and MyoclonusMitochondrial Function and PathologyTrypanosoma species research and implicationsCarbohydrate Chemistry and SynthesisBiochemical and Molecular ResearchCellular transport and secretionGlycosylation and Glycoproteins ResearchFolate and B Vitamins Research