Jolanta Sykut‐Cegielska

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study

Background: Regular biochemical monitoring is essential for the safe and effective dietary treatment of inherited disorders of amino acid metabolism. However, conventional venous blood sampling may limit monitoring frequency and increase the burden on families. This study evaluat...

Invisible impairments? A study of emotional and social functioning in children with inborn errors of metabolism

Abstract Background Inborn errors of metabolism (IEM) can affect the cognitive and socio-emotional development of children, even when a stable metabolic state is maintained and treatment is initiated early. Increasing evidence suggests that certain groups of patients with IEM may...