Acute intoxication‐type inborn errors of metabolism (IT‐IEM) such as urea cycle disorders
and non‐acute IT‐IEM such as phenylketonuria have a major impact on paediatric patients' …

Introduction: This chapter is about the effects on the central nervous system (CNS) of inborn
errors of metabolism (IEM). IEM are a large number of rare genetic disorders caused by …

Purpose The clinical and psychosocial outcomes associated with receiving a genetic
diagnosis for developmental disorders are wide-ranging but under-studied. We sought to …

Specific, often unbalanced diets are used to circumvent the metabolic defects of patients
with monogenic inborn errors of metabolism. Human epidemiological studies and …

Inborn errors of metabolism (IEM) are a heterogeneous group of rare genetic disorders that
are generally transmitted as autosomal or X-linked recessive disorders. These defects arise …

Mitochondrial disease comprises a group of rare, genetic, life-limiting, neurodegenerative
disorders known to affect children. Little is known about disease-related challenges …

Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500
births. The first opportunity to detect IEM occurs during preconception counseling, when …

Background We examined the birth outcomes of children with inborn errors of metabolism
detected at birth or later in life. Methods We carried out a retrospective cohort study of 1733 …

Little is known about the psychosocial profiles of parents who have a child with an
undiagnosed chronic illness. The National Institutes of Health Undiagnosed Diseases …

Inborn errors of metabolism are disorders of great importance to physicians treating
newborns because rapid diagnosis and appropriate treatment of these conditions are …