Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder
characterized by low bone density. The type and severity of OI are variable. The primary …

Saturation has attained widespread acceptance as a methodological principle in qualitative
research. It is commonly taken to indicate that, on the basis of the data that have been …

Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation (s)
within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP has a …

Background The novel coronavirus (SARS-CoV-2) has led to a global pandemic, resulting in
a disease termed COVID-19, which commonly presents in adults as a typical infection of the …

Introduction No burn-scar specific, health-related quality of life (HRQOL) measure exists.
This study aimed to develop a patient-reported, evaluative HRQOL measure to assess the …

Background Osteogenesis imperfecta (OI) is a rare heritable connective tissue disorder
primarily characterised by skeletal deformity and fragility, and an array of secondary …

Clinical interventions and research have mostly focused on the orthopedic, genetic, and
pharmacological outcomes of individuals with osteogenesis imperfecta (OI), and although …

Background Although participation of children with rare diseases in school is considered
beneficial, it poses new challenges for the educational system, but also for the affected …

Inclusion of children with rare diseases in school poses challenges for the educational
services, teachers and other school staff. This research aimed to identify these challenges …