[HTML][HTML] Diagnosis of rare diseases under focus: impacts for Canadian patients

D Esquivel-Sada, MT Nguyen - Journal of community genetics, 2018 - Springer
This paper presents an in-depth qualitative analysis of the impact of diagnosis on the lives of
rare disease (RD) patients. While diagnosis may be described as a watershed step for RD …

[HTML][HTML] Transition from childhood to adulthood in patients with Duchenne muscular dystrophy

E Wasilewska, S Małgorzewicz, A Sobierajska-Rek… - Medicina, 2020 - mdpi.com
Recently, progress has been observed in the knowledge about Duchenne Muscular
Dystrophy (DMD), which is a severe and commonly diagnosed genetic myopathy in …

[HTML][HTML] Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current …

G Accogli, C Ferrante, I Fanizza, MC Oliva, I Gallo… - Acta …, 2022 - ncbi.nlm.nih.gov
Objective Standards of care and new genetic and molecular therapies have contributed to
increasing life expectancy of patients with neuromuscular diseases (NMDs). This review …

Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs: disease features, comorbidities and complications of …

AO Frank, LH De Souza - Disability and rehabilitation, 2018 - Taylor & Francis
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair
users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of …

[HTML][HTML] The importance of implementing a transition strategy for patients with muscular dystrophy: from child to adult—insights from a tertiary centre for rare …

M Lupu, M Ioghen, RȘ Perjoc, AM Scarlat… - Children, 2023 - mdpi.com
Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based
on international standards of care has led to a significant increase in the life expectancy of …

[PDF][PDF] Giuseppe Accogli, Camilla Ferrante, Isabella Fanizza, Maria Carmela Oliva, Ivana Gallo, Marta De Rinaldis, Antonio Trabacca

A Trabacca - ACTA MYOLOGICA, 2022 - old.actamyologica.it
Objective. Standards of care and new genetic and molecular therapies have contributed to
increasing life expectancy of patients with neuromuscular diseases (NMDs). This review …

Secondary Osteoporosis in Conditions of Pediatric Onset

CV Oleson, CV Oleson - Osteoporosis Rehabilitation: A Practical …, 2017 - Springer
Continuing the themes set forth in the prior chapter, secondary osteoporosis can result from
disorders of the central nervous system or directly from the muscles. This chapter will …

Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs: disease features, comorbidities and complications of …

LH Desouza, AO Frank - 2017 - bura.brunel.ac.uk
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair
users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of …

Problematic clinical features of children and adults with cerebral palsy who use electric powered indoor/outdoor wheelchairs: A cross-sectional study

LH Desouza, AO Frank - 2016 - bura.brunel.ac.uk
Aim: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC)
users with cerebral palsy (CP) that are problematic to optimal prescription; and explore the …

Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs (EPIOCs): disease features, comorbidities and …

LH De Souza, AO Frank - 2016 - bura.brunel.ac.uk
Purpose: To describe the clinical features of electric powered indoor/outdoor wheelchair
users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of …