
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme
Keywords: BD; biotinidase deficiency; CIT 1; type I citrullinaemia; FFA; free fatty acid; GA-1; type I glutaric aciduria; GALE; classical galactosaemia; GALK; galactokinase deficiency; HPA; hyperphenylalaninaemia; IEM; inborn errors of metabolism; IQ; Intellectual