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 …

This is one of an occasional series of articles commenting on trends, advances, and
challenges in understanding and treating inborn errors of metabolism (IEMs). Previously, we …

These new therapies offer more therapeutic options for individuals with inborn errors of
metabolism. These new therapies have the potential to improve patient compliance and …

Inborn errors of metabolism (IEM) represent the first group of genetic disorders, amenable to
causal therapies. In addition to traditional medical diet and cofactor treatments, new …

About 60 years after Garrod's premonitory dissertations on 4 inborn errors of metabolism
(IEM), the first edition of the classic textbook The Metabolic Basis of Inherited Disease by …

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 …

Although the treatment of a small number of inborn errors is very good, for the majority the
outcome is less satisfactory. This review examines current treatment critically and suggests …

Inborn errors of metabolism have traditionally been viewed as the quintessential single gene
disorders; defects in one gene leads to loss of activity of one enzyme causing a metabolic …

Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical
biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of …

Great progress has been made in the field of hereditary metabolic diseases since the
beginning of the past century, when metabolic disorders were not really understood and …