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Rare Disease and Orphan Drugs Journal

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Early diagnosis of systemic lupus erythematosus

Abstract:
Systemic lupus erythematosus (SLE) poses significant diagnostic challenges. First, it is characterized by a highly variable combination of autoantibodies and a... MORE
Open Access Review DOI: 10.20517/rdodj.2024.59 27 May 2025
Views: 17 Downloads: 4
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Exercise and myasthenia gravis

Abstract:
Myasthenia gravis (MG) is an autoimmune disease primarily affecting the neuromuscular junction. Its main clinical manifestations are fluctuating muscle... MORE
Open Access Review DOI: 10.20517/rdodj.2024.42 20 May 2025
Views: 91 Downloads: 44
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Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband

Abstract:
Aim: Familial hypercholesterolaemia (FH), an autosomal-dominant disorder, requires early diagnosis to prevent atherosclerosis in children and coronary... MORE
Open Access Original Article DOI: 10.20517/rdodj.2024.50 8 May 2025
Views: 195 Downloads: 114
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Measurement of Achilles tendon thickness using ultrasonography for diagnosis and risk assessment in patients with familial hypercholesterolemia

Abstract:
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and... MORE
Open Access Review DOI: 10.20517/rdodj.2024.57 23 Apr 2025
Views: 137 Downloads: 77
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Exploring new therapeutics for Duchenne muscular dystrophy and related cardiomyopathy

Abstract:
Duchenne muscular dystrophy (DMD) is a severe and progressively debilitating X-linked recessive disorder caused by mutations in the DMD gene, which... MORE
Open Access Review DOI: 10.20517/rdodj.2024.44 2 Apr 2025
Views: 297 Downloads: 310
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Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force

Abstract:
Drug repurposing represents a real opportunity to address unmet needs and improve the lives of rare disease patients. It is often presented as a faster, safer... MORE
Open Access Perspective DOI: 10.20517/rdodj.2023.04 24 Apr 2023
Views: 2079 Downloads: 1112
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Federated learning for rare disease detection: a survey

Abstract:
The detection of rare diseases utilizing advanced artificial intelligence (AI) techniques has garnered considerable attention in recent years. Numerous... MORE
Open Access Review DOI: 10.20517/rdodj.2023.16 9 Oct 2023
Views: 911 Downloads: 568
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Connecting academia and industry for innovative drug repurposing in rare diseases: it is worth a try

Abstract:
There are different approaches to drug repurposing (DR) depending on the status of the repurposable drug/molecule (approved, investigational, withdrawn,... MORE
Open Access Perspective DOI: 10.20517/rdodj.2023.06 9 Apr 2023
Views: 1424 Downloads: 1229
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Rare Disease and Orphan Drugs Journal is delighted to announce support for the 2024 Global Rare Disease Research Symposium
Starting from 2022, all publications of RDODJ will be fully indexed in Scopus.
Exploring the Frontiers of Pediatric Endocrinology and Scientific Publishing
Familial Hypercholesterolemia
During the interview, Dr. Hagerman elaborated on the key points of her article, current research, and prospects within the field of Fragile X Syndrome, and offered suggestions for the future development of the journal.
Rare Disease and Orphan Drugs Journal is delighted to announce support for the 2024 Global Rare Disease Research Symposium
Starting from 2022, all publications of RDODJ will be fully indexed in Scopus.
Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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All published articles are preserved here permanently:

https://www.portico.org/publishers/oae/