نتائج البحث

Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale

• Authors : Annie Ting Gee Chiu; Sheila Suet Na Wong; Naomi Wing Tung Wong

Subjects: Paediatric neurodegenerative diseases; Health-related quality of life; Symptom burden

• Source: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

تفاصيل العنوان

Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale.

• Authors : Chiu ATG; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.; Wong SSN

Subjects: Neurodegenerative Diseases* ; Sialorrhea*; Child

• Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Sep 02; Vol. 17 (1), pp. 334. Date of Electronic Publication: 2022 Sep 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.

• Authors : Thomas, Sophie; Morrison, Alexandra; Morton, Georgina

Subjects: CAREGIVERS; LYSOSOMAL storage diseases; HEMATOPOIETIC stem cellsUNITED Kingdom; IRELAND

• Source: Orphanet Journal of Rare Diseases; 2/25/2024, Vol. 19 Issue 1, p1-9, 9p

تفاصيل العنوان

Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.

• Authors : D'Amore, Simona^1,2 (AUTHOR); Mckie, Mark¹ (AUTHOR); Fahey, Andrew³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/11/2024, Vol. 19 Issue 1, p1-10. 10p.

تفاصيل العنوان

Challenges of palliative care in children with inborn metabolic diseases

• Authors : Michaela Kuhlen; G. Janßen; Jens Warfsmann

Subjects: Advance care planning; Adult; Male

• Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)Orphanet Journal of Rare Diseases

تفاصيل العنوان

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency.

• Authors : Raebel, Eva M.¹ (AUTHOR); Wiseman, Samantha¹ (AUTHOR); Donnelly, Conan² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/1/2024, Vol. 19 Issue 1, p1-15. 15p.

تفاصيل العنوان

Burden associated with Fabry disease and its treatment in 12-15 year olds: results from a European survey.

• Authors : Bashorum, Lisa¹ (AUTHOR); McCaughey, Gerard¹ (AUTHOR); Evans, Owen² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/15/2022, Vol. 17 Issue 1, p1-12. 12p.

تفاصيل العنوان

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.

• Authors : Jönsson, Åsa Lina M.^1,2 (AUTHOR) ; Hilberg, Ole^3,4 (AUTHOR) ; Simonsen, Ulf² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 5/31/2023, Vol. 18 Issue 1, p1-15. 15p.

تفاصيل العنوان

Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

• Authors : Simona D’Amore; Mark Mckie; Andrew Fahey

Subjects: Fabry disease; Smartphone applications; Patient reported data

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)

تفاصيل العنوان

Norm-based comparison of the quality-of-life impact of ravulizumab and eculizumab in paroxysmal nocturnal hemoglobinuria.

• Authors : Schwartz, Carolyn E.^1,2 (AUTHOR) ; Stark, Roland B.¹ (AUTHOR); Borowiec, Katrina^1,3 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 9/15/2021, Vol. 16 Issue 1, p1-15. 15p.

تفاصيل العنوان