Therapeutic Advances in Rare Disease

Published by SAGE Publishing

Open access · CC BY-NC · In DOAJ · United Kingdom · Genomics and Rare Diseases

Journal at a glance

ISSN

2633-0040

Publisher

SAGE Publishing

Country

United Kingdom

Language

en

License

CC BY-NC

Also known as: Ther Adv Rare Dis (Abbreviation), TRD (Alternate title), TAIRD (Alternate title)

Indexing

• Scopus: Indexed
• DOAJ: Active
• Pubmed: Active

Metrics

Subjects

• Genomics and Rare Diseases
• Lysosomal Storage Disorders Research
• Mitochondrial Function and Pathology
• Genetics and Neurodevelopmental Disorders
• Health Systems, Economic Evaluations, Quality of Life
• Glycogen Storage Diseases and Myoclonus
• Metabolism and Genetic Disorders
• Medicine: Internal medicine
• Internal medicine

Articles on PubPorta

The most recent records PubPorta holds for this journal.

• First bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report (2026)
• Treatment outcomes maintained in Hunter syndrome patients: a case series on switching from idursulfase to idursulfase beta in Belarus (2026)
• Cancer prevalence in primary mitochondrial disease patients and their families (2026)
• Patients’ lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study (2026)
• A novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in ALDH7A1 : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment (2026)

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• Journal of Inherited Metabolic Disease — United Kingdom · — · Same subject: Lysosomal Storage Disorders Research, Same subject: Metabolism and Genetic Disorders, 3 shared subjects in total, Same country
• Journal of Inherited Metabolic Disease — United Kingdom · — · Same subject: Lysosomal Storage Disorders Research, Same subject: Metabolism and Genetic Disorders, 3 shared subjects in total, Same country
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Sources: DOAJ, OpenAlex, NLM Catalog, Crossref, Scopus · Last verified 2026-09-05

Journal homepage · Author guidelines