The present study was undertaken to characterize the variables that influence parental
perception of metabolic disorders and their genetic origin before and after genetic …

Inborn errors of metabolism that belong to the same biochemical pathway often have similar
clinical features, are detected by the same diagnostic procedures (basic and special …

Inborn errors of metabolism (IEM) are a group of disorders that result from impairment in
normal metabolic processes, most often due to an enzyme or transporter deficiency. More …

To assess the quality of life (QoL) of children in Japan with inborn errors of metabolism (IEM)
as well as of their parents, we reviewed 23 previous studies published in Japanese and 1 …

Many inborn errors of intermediary metabolism present during periods of poor oral intake or
intercurrent illness. Under these conditions, the body switches to a predominantly catabolic …

Background In recent decades, considerable progress in diagnosis and treatment of patients
with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders …

Purpose We propose a nosology for inborn errors of metabolism that builds on their recent
redefinition. Methods We established a strict definition of criteria to develop a self-consistent …

Recent innovations in medical technology have changed newborn screening programs in
the United States. The widespread use of tandem mass spectrometry is helping to identify …

Background: Inborn errors of metabolism (IEM) are mostly transmitted as autosomal
recessive disorders and are therefore more frequent in countries with high consanguinity …

Patient reported outcomes (PROs) are generally defined as 'any report of the status of a
patient's health condition that comes directly from the patient, without interpretation of the …