[HTML][HTML] Parenting a child with phenylketonuria (PKU): an interpretative phenomenological analysis (IPA) of the experience of parents
K Carpenter, A Wittkowski, DJ Hare, E Medford… - Journal of genetic …, 2018 - Springer
Phenylketonuria (PKU) is a rare inherited metabolic disorder which can cause neurological
damage if left untreated. PKU is identified through newborn screening in developed …
damage if left untreated. PKU is identified through newborn screening in developed …
Public attitudes toward expanded newborn screening
JM DeLuca - Journal of pediatric nursing, 2018 - Elsevier
Purpose There is limited research available on public knowledge and understanding of
expanded newborn screening (NBS). The aims of this study were to assess current public …
expanded newborn screening (NBS). The aims of this study were to assess current public …
Exploring the issues surrounding clinical exome sequencing in the prenatal setting
S Narayanan, B Blumberg, ML Clayman, V Pan… - Journal of genetic …, 2018 - Springer
Exome sequencing is a clinical diagnostic test offered primarily for children and adults with
suspected genetic conditions. The purpose of this study was to explore issues related to …
suspected genetic conditions. The purpose of this study was to explore issues related to …
[HTML][HTML] National survey assessment of the United States' pediatric residents' knowledge, attitudes, and practices regarding newborn screening
S Bansal, K Kasturi, VL Chin - International Journal of Neonatal …, 2018 - mdpi.com
A pediatrician's approach to newborn screening (NBS) impacts patient care. Some
physicians have reported not being well prepared to inform families about a positive NBS …
physicians have reported not being well prepared to inform families about a positive NBS …
Psychosocial distress and knowledge deficiencies in parents of children in ireland WHO carry an altered cystic fibrosis gene
SJ Quigley, B Linnane, S Connellan, A Ward… - Journal of Genetic …, 2018 - Springer
Significant gaps have been identified in parental understanding of CF newborn screening
and the consequences of carrying an altered CF gene. Seven potential causes of …
and the consequences of carrying an altered CF gene. Seven potential causes of …