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Rare Diseases: Prevalence, Treatment Options and Research Insights

• Authors : Author Unknown

Subjects: Rare diseasesMEDICAL / Evidence-Based Medicine; HEALTH & FITNESS / Diseases & Conditions / General; MEDICAL / Clinical Medicine

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Rare Diseases : Challenges and Opportunities for Social Entrepreneurs

• Authors : Nicolas Sireau

Subjects: Pharmaceutical industry; Rare diseasesBUSINESS & ECONOMICS / General; BUSINESS & ECONOMICS / Business Ethics; BUSINESS & ECONOMICS / Entrepreneurship

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Orphanet journal of rare diseases. [electronic resource].

Subjects: Rare diseases -- Periodicals; Rare Diseases; Orphan Drug Production

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Telemedicine for Personalized Nutritional Intervention of Rare Diseases: A Narrative Review on Approaches, Impact, and Future Perspectives.

• Authors : Eletti, Francesca^1,2 ; Tagi, Veronica Maria^1,2 ; Greco, Ilenia Pia¹

Subjects: *TREATMENT of rare diseases; *METABOLIC disorders; *HEALTH services accessibility

• Source: Nutrients. Feb2025, Vol. 17 Issue 3, p455. 15p.

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Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.

• Authors : Tan, Jia W.¹ (AUTHOR) ; Blake, Emily J.¹ (AUTHOR); Farris, Joseph D.¹ (AUTHOR)

Subjects: *DNA methylation; *RARE diseases; *GENE expression

• Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 1, p135. 12p.

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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

• Authors : de Oliveira, Bibiana Mello^1,2 (AUTHOR); Bernardi, Filipe Andrade³ (AUTHOR); Baiochi, João Francisco⁴ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 10/30/2024, Vol. 19 Issue 1, p1-13. 13p.

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Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study.

• Authors : Cabieses, Báltica^1,2 (AUTHOR); Obach, Alexandra¹ (AUTHOR) ; Roberts, Antonia¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/25/2025, Vol. 20 Issue 1, p1-11. 11p.

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Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.

• Authors : Hernández-Rodríguez, José¹ (AUTHOR) ; Martínez-Valle, Fernando² (AUTHOR) ; Acebes, Xènia³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/29/2025, p1-14. 14p.

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Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

• Authors : Orellana, Carmen^1,2 (AUTHOR) ; Rosello, Monica^1,2 (AUTHOR); Sanchis, Amparo³ (AUTHOR)

Subjects: *GENE mapping; *GENOMICS; *GENETIC variation

• Source: International Journal of Molecular Sciences. Feb2025, Vol. 26 Issue 3, p1244. 10p.

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Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).

• Authors : Granata, Francesca¹ (AUTHOR) ; Vigna, Luisella² (AUTHOR) ; Pierro, Elena Di¹ (AUTHOR)

Subjects: *GLUCOSE; *LIFESTYLES; *PEARSON correlation (Statistics)ITALY

• Source: Nutrition & Metabolism. 3/11/2025, Vol. 22 Issue 1, p1-11. 11p.

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