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  • 1-10 ل  233 نتائج ل ""Activities of Daily Living""

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Publication : orphanet journal of rare diseases
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Academic Journal

A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy.

  • Authors : Glascock J; Cure SMA, 925 Busse Road, Elk Grove Village, IL, 60007, USA.; Belter LT

Subjects: Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/physiopathology ; Fatigue*/Fatigue*/Fatigue*/physiopathology; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Oct 17; Vol. 20 (1), pp. 519. Date of Electronic Publication: 2025 Oct 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Patient experience in retinitis pigmentosa and Choroideremia– a concept elicitation study in 17 patients based on qualitative interviews.

Subjects: RETINITIS pigmentosa; CHOROIDEREMIA; PATIENTS' attitudes

  • Source: Orphanet Journal of Rare Diseases; 8/11/2025, Vol. 20 Issue 1, p1-14, 14p

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Academic Journal

Impact of body mass index on clinical presentation and prognosis in myasthenia gravis

Subjects: Body mass index; Myasthenia Gravis; Generalization of ocular myasthenia Gravis

  • Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-7 (2025)

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Academic Journal

Exploring patients' experiences with wAIHA and the content validity of the FACIT-fatigue: a qualitative interview study.

Subjects: SYMPTOMS; AUTOIMMUNE hemolytic anemia; FATIGUE (Physiology)

  • Source: Orphanet Journal of Rare Diseases; 8/6/2025, Vol. 20 Issue 1, p1-14, 14p

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Academic Journal

Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.

  • Authors : Fagereng E; TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Norway. .; Htwe S

Subjects: Quality of Life* ; Mental Health* ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/psychology

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 11; Vol. 20 (1), pp. 116. Date of Electronic Publication: 2025 Mar 11.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.

  • Authors : Moisan L; Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.; Iannuzzi D

Subjects: Activities of Daily Living* ; Mucopolysaccharidosis IV*/Mucopolysaccharidosis IV*/Mucopolysaccharidosis IV*/drug therapy ; Mucopolysaccharidosis IV*/Mucopolysaccharidosis IV*/Mucopolysaccharidosis IV*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Sep 29; Vol. 15 (1), pp. 270. Date of Electronic Publication: 2020 Sep 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.

Subjects: Activities of Daily Living* ; Mucopolysaccharidosis VI*/Mucopolysaccharidosis VI*/Mucopolysaccharidosis VI*/complications ; Mucopolysaccharidosis VI*/Mucopolysaccharidosis VI*/Mucopolysaccharidosis VI*/drug therapy

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 02; Vol. 16 (1), pp. 500. Date of Electronic Publication: 2021 Dec 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study

Subjects: Activities of daily living (ADL); Hereditary transthyretin amyloidosis; Occupational therapy

  • Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

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Academic Journal

Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia.

  • Authors : Malina J; Department of Neurology, University Hospital Essen, Essen, Germany.; Huessler EM

Subjects: Neurodegenerative Diseases* ; Spastic Paraplegia, Hereditary*; Humans

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 02; Vol. 19 (1), pp. 2. Date of Electronic Publication: 2024 Jan 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Subjects: Behavioral and Social Science; Nutrition; Rare Diseases

  • Source: Orphanet Journal of Rare Diseases. 15(1)

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  • 1-10 ل  233 نتائج ل ""Activities of Daily Living""