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Academic Journal

A first description of the Colombian national registry for rare diseases.

Authors : Mateus, Heidi Eliana¹; Pérez, Ana María¹; Mesa, Martha Lucía²

Source: BMC Research Notes. 10/26/2017, Vol. 10, p1-7. 7p. 2 Charts, 1 Map.

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Academic Journal

E-Learning for Rare Diseases: An Example Using Fabry Disease.

Authors : Cimmaruta, Chiara¹ ; Liguori, Ludovica^2,3 ; Monticelli, Maria¹

Source: International Journal of Molecular Sciences. Oct2017, Vol. 18 Issue 10, p2049. 15p. 8 Color Photographs, 1 Chart.

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Academic Journal

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Authors : Ars, Elisabet¹; Torra, Roser²

Source: Clinical Kidney Journal. Oct2017, Vol. 10 Issue 5, p586-593. 8p.

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Academic Journal

Medicamentele orfane și bolile orfane, prezent și viitor.

Authors : Roncea, Florentina¹ ; Mireşan, Horaţiu^1,2; Roşca, Cosmin Adrian¹

Source: Farmacist.ro. 2017, Issue 3, p18-25. 8p.

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Academic Journal

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

Authors : Blöß, Susanne¹; Klemann, Christian^2,3; Rother, Ann-Katrin¹

Source: PLoS ONE. 2/24/2017, Vol. 12 Issue 2, p1-12. 12p.

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Academic Journal

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

Authors : Pavan, Sonia¹ ; Rommel, Kathrin²; Mateo Marquina, María Elena³

Source: PLoS ONE. 1/18/2017, Vol. 12 Issue 1, p1-14. 14p.

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Academic Journal

A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?

Authors : Rath, Ana¹; Salamon, Valérie¹; Peixoto, Sandra¹

Source: Trials. 11/22/2017, Vol. 18, p1-11. 11p. 1 Diagram, 1 Chart.

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Academic Journal

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Authors : Sernadela, Pedro¹; González-Castro, Lorena²; Carta, Claudio³

Source: BioMed Research International. 10/29/2017, Vol. 2017, p1-13. 13p.

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Academic Journal

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Authors : Zurynski, Yvonne^1,2 ; Deverell, Marie^1,2; Dalkeith, Troy^1,3

Source: Orphanet Journal of Rare Diseases. 4/11/2017, Vol. 12, p1-9. 9p.

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Academic Journal

Engaging the Canadian public on reimbursement decision-making for drugs for rare diseases: a national online survey.

Authors : Polisena, Julie¹ ; Burgess, Michael²; Mitton, Craig^3,4

Source: BMC Health Services Research. 5/26/2017, Vol. 17, p1-9. 9p. 4 Charts.

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نتائج البحث

فلترة النتائج

A first description of the Colombian national registry for rare diseases.

E-Learning for Rare Diseases: An Example Using Fabry Disease.

Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.

Medicamentele orfane și bolile orfane, prezent și viitor.

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.

A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.

Engaging the Canadian public on reimbursement decision-making for drugs for rare diseases: a national online survey.

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