… Parents of children with inborn errors of metabolism (IEM) face … interview guide was designed
to elicit familial experiences … were identified through qualitative descriptive textual analysis …

… with inborn errors of metabolism attended to in a hospital. … clinic of a tertiary care hospital to
be interviewed face-to-face or on … programmes to reduce the social pressure they experience. …

… In focus groups and interviews conducted by our research … Experience during the testing
sessions in healthy children … ) were difficult to convey to younger children but worked well for …

… based on our personal experience with an expansive… inborn errors of metabolism are
autosomal recessive or X-linked conditions, all affected patients are at risk to have an affected child…

… Patients with IEMRDs experience specific psychosocial concerns not seen with other chronic
… Finally, we thank each family that participated in this research study for their time and …

… The CIMDRN recently has published lessons for consideration in future research initiatives
for rare diseases based on their experience with the establishment of a comprehensive …

… In this study, we sought to characterize the emotional experience of ZSD family caregivers. …
The semi-structured focus group interview guide included a range of questions on issues …

… and four one-on-one qualitative interviews with a total of 35 … , hemoglobin disorders, inborn
errors of metabolism, cystic … ’ diverse experiences in interacting with the NBS system, and …

… and experience of metabolic crises and hospitalisations to be considerably burdensome.
Children … was in accordance with the ethical standards of the institutional and national research …

… are the first child identified in the family [4]. … of the research team, including experts in
pediatric metabolic diseases, … , although carriers typically do not experience any symptoms. The …