Objectives There are more than 6000 heterogeneous rare diseases and little is known about
shared experiences of affected individuals in everyday life and healthcare. Objective of this …

Background We sought to understand the experiences of parents/caregivers of children with
inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and …

Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological
damage if left untreated. PKU is identified through newborn screening in developed …

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 …

Inborn errors of metabolism (IEMs) are rare hereditary or acquired disorders resulting from
an enzymatic deformity in biochemical and metabolic pathways influencing proteins, fats …

Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn
errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup …

Background Living with a non-acute (phenylketonuria) or acute (eg urea cycle disorders,
organic acidurias) intoxication-type inborn error of metabolism (IT-IEM) can have a …

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial
challenges. An increased understanding and awareness of these stressors can ensure …

BACKGROUND AND OBJECTIVE: Pediatric rare diseases are often life-limiting conditions
and/or require constant caregiving. Investigators assessed the initial efficacy of the FAmily …

Background Public and patient involvement in the design of people-centred care and
research is vital for communities whose needs are underserved, as are people with rare …