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

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 …

Background: Inborn errors of metabolism (IEMs) refer to rare heterogeneous genetic
disorders with various clinical manifestations that can cause serious physical and …

Inborn errors of metabolism result in psychosocial crises that challenge individual and
familial modes of functioning across the life cycle. Increased stress, mood disorders …

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 …

We report here the results of treatment in a panel of 65 inborn errors of metabolism, obtained
in the 25th year of a longitudinal project, first reported in 1983. The phenotypic impact of …

Patients with inborn errors of metabolism and their families require unique clinical care
including management of acute illnesses, screening for long term complications, discussion …

The Interaction Model of Client Health Behavior (IMCHB) served as a guide for variable
selection and instrument development for telephone interviews with 230 parents of children …

Individually rare but collectively common, inborn errors of metabolism (IEMs) are genetic
disorders of metabolic pathways that result in multisystem dysfunction and may reduce …

Background Newborn screening for inborn errors of metabolism is regarded as highly
successful by health professionals. Little is known about parents' perspectives on child …