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Publication : orphanet journal of rare diseases

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Academic Journal

Are adult cystic fibrosis patients satisfied with medication treatment?

Authors : Akman, Esen Deniz¹ (AUTHOR) ; Yalçın, Nadir¹ (AUTHOR) ; Karcıoğlu, Oğuz² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 4/12/2025, Vol. 20 Issue 1, p1-10. 10p.

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Academic Journal

'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability.

Authors : Klein Haneveld, Mirthe Jasmijn^1,2,3,4 (AUTHOR); de Mortier, Chloé Aymée^5,6,7 (AUTHOR); Hugon, Anne^2,8 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 4/10/2025, Vol. 20 Issue 1, p1-11. 11p.

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Academic Journal

Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.

Authors : El Hachem, May¹ (AUTHOR); Diociaiuti, Andrea¹ (AUTHOR) ; Bonamonte, Domenico² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/16/2025, Vol. 20 Issue 1, p1-19. 19p.

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Academic Journal

PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.

Authors : van Silfhout, Nadia Y.^1,2,3,4,5 (AUTHOR); van Muilekom, Maud M.^1,4 (AUTHOR); van Karnebeek, Clara D.^2,3,5 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 9/27/2024, Vol. 19 Issue 1, p1-9. 9p.

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Academic Journal

Patient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and measures for people with alpha1-antitrypsin deficiency.

Authors : Seçinti, Ekin¹ (AUTHOR) ; Schantz, Karolina² (AUTHOR) ; Delbecque, Laure¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/22/2025, Vol. 20 Issue 1, p1-16. 16p.

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Academic Journal

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Authors : Héron, Bénédicte¹ (AUTHOR) ; Batzios, Spyros² (AUTHOR); Mengel, Eugen³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 12/5/2024, Vol. 19 Issue 1, p1-11. 11p.

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Academic Journal

"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.

Authors : Pokrzywinski, Robin¹ (AUTHOR) ; Bartke, Danaé² (AUTHOR); Clucas, Claudine³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/6/2025, Vol. 20 Issue 1, p1-11. 11p.

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Academic Journal

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients.

Authors : Severa, Gianmarco^1,2 (AUTHOR); Alfaro, Maria del Carmen³ (AUTHOR); Alimi Ichola, Christophe^1,4 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/20/2024, Vol. 19 Issue 1, p1-7. 7p.

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Academic Journal

Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.

Authors : Rojas Martínez, Jorge Armando¹ (AUTHOR) ; Zarante Bahamón, Ana María¹ (AUTHOR); Salazar, Luz Victoria² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/6/2024, Vol. 19 Issue 1, p1-14. 14p.

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Academic Journal

Quality of life and unmet needs in patients with fabry disease: a qualitative study.

Authors : Morales, Montserrat¹ (AUTHOR); Cruz, Jordi² (AUTHOR); Brignani, Eduardo² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 10/18/2024, Vol. 19 Issue 1, p1-12. 12p.

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فلترة النتائج

Are adult cystic fibrosis patients satisfied with medication treatment?

'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability.

Taking care of patients with recessive dystrophic epidermolysis bullosa from birth to adulthood: a multidisciplinary Italian Delphi consensus.

PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.

Patient-centered assessment of treatment for alpha-1 antitrypsin deficiency: literature review to identify concepts and measures for people with alpha1-antitrypsin deficiency.

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

"My dream is to not have to be on a diet": a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective.

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients.

Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.

Quality of life and unmet needs in patients with fabry disease: a qualitative study.

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