Autor: Barbara K. Burton

A concise, clinically-focused guide to the evaluation and management of infants with congenital malformations Congenital Malformations is a comprehensive, practical text that highlights key perspecti …

In patients with phenylketonuria (PKU), blood phenylalanine concentration during childhood is the major determinant of cognitive outcome. Thanks to newborn screening and early dietary therapy, indivi …

Disorders affecting the oxidation of long-chain fatty acids are complex, potentially life-threatening, metabolic conditions. A number of genetically distinct conditions exist, depending on the gene a …

Les troubles d’oxydation des acides gras à chaîne longue (TOAG-CL) sont des maladies héréditaires rares. Les TOAG-CL font en sorte que le corps a de la difficulté à convertir les acides gras en énerg …