Background: Parents of children with phenylketonuria are at risk of reduced quality of life.
Aims: This study determined the quality of life of parents of children with phenylketonuria in …

OBJECTIVE To assess parent anxiety in response to genetic and islet autoantibody (IA)
testing in children at increased genetic risk for type 1 diabetes followed from birth in The …

Objective This study aimed to assess the impact of phenylketonuria (PKU) and its treatment
on parent and child health‐related quality of life (HRQoL) and to identify the parenting …

Background Phenylketonuria is a hereditary disease caused by the lack or deficiency of
phenylalanine hydroxylase enzyme activity. Parents of children with phenylketonuria …

Background Phenylketonuria (PKU) screening is a public health measure taken to diagnose
and treat the patients with PKU to prevent severe neurological disorders in them. The …

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

Phenylketonuria (PKU) represents a common inborn error of metabolism. PKU management
is complicated and bothersome; multiple challenges may represent strains on the Quality Of …

There is agreement that the pandemic has affected the healthcare system and behaviour of
patients. This study aims to identify problems encountered by patients with phenylketonuria …

Introduction: In phenylketonuria (PKU) changes in dietary patterns and behaviors in
sapropterin-responsive populations have not been widely reported. We aimed to assess …

Having a child with phenylketonuria is extremely stressful for the parents. These parents
always look for solutions for negative effects of their child's disease. Parents' strategies are …