[HTML][HTML] Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups
SD Khangura, K Tingley, P Chakraborty… - Journal of Inherited …, 2016 - Springer
Background Patient-centered health care for children with inborn errors of metabolism (IEM)
and their families is important and requires an understanding of patient experiences, needs …
and their families is important and requires an understanding of patient experiences, needs …
[HTML][HTML] Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism
P Rajasekar, S Gannavarapu, M Napier… - Molecular Genetics and …, 2020 - Elsevier
Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial
challenges. An increased understanding and awareness of these stressors can ensure …
challenges. An increased understanding and awareness of these stressors can ensure …
[HTML][HTML] Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
S Siddiq, BJ Wilson, ID Graham, M Lamoureux… - Orphanet journal of rare …, 2016 - Springer
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 …
inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and …
[HTML][HTML] Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
NA Zeltner, MM Welsink-Karssies, MA Landolt… - Orphanet journal of rare …, 2019 - Springer
Background Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and
complex genetic conditions. Clinically, IEM often affect the central nervous system and other …
complex genetic conditions. Clinically, IEM often affect the central nervous system and other …
[HTML][HTML] Scoping review of patient-and family-oriented outcomes and measures for chronic pediatric disease
SD Khangura, MD Karaceper, Y Trakadis, JJ Mitchell… - BMC pediatrics, 2015 - Springer
Background Improvements in health care for children with chronic diseases must be
informed by research that emphasizes outcomes of importance to patients and families. To …
informed by research that emphasizes outcomes of importance to patients and families. To …
Living with an inborn error of metabolism detected by newborn screening—parents' perspectives on child development and impact on family life
G Gramer, G Haege, EM Glahn, GF Hoffmann… - Journal of Inherited …, 2014 - Springer
Background Newborn screening for inborn errors of metabolism is regarded as highly
successful by health professionals. Little is known about parents' perspectives on child …
successful by health professionals. Little is known about parents' perspectives on child …
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
A Ghosh, H Schlecht, LE Heptinstall… - Archives of Disease in …, 2017 - adc.bmj.com
Background Inborn errors of metabolism (IEMs) underlie a substantial proportion of
paediatric disease burden but their genetic diagnosis can be challenging using the …
paediatric disease burden but their genetic diagnosis can be challenging using the …
Genetic counseling in a busy pediatric metabolic practice
JN Hartley, CR Greenberg, AA Mhanni - Journal of Genetic Counseling, 2011 - Springer
Patients with inborn errors of metabolism and their families require unique clinical care
including management of acute illnesses, screening for long term complications, discussion …
including management of acute illnesses, screening for long term complications, discussion …
[HTML][HTML] Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence …
Across all areas of health care, decision makers are in pursuit of what Berwick and
colleagues have called the “triple aim”: improving patient experiences with care, improving …
colleagues have called the “triple aim”: improving patient experiences with care, improving …
[HTML][HTML] Family experiences with care for children with inherited metabolic diseases in Canada: a cross-sectional survey
AJ Chow, M Pugliese, LA Tessier… - The Patient-Patient …, 2022 - Springer
Abstract Background and Objective Children with inherited metabolic diseases often require
complex and highly specialized care. Patient and family-centered care can improve health …
complex and highly specialized care. Patient and family-centered care can improve health …