Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass
spectrometry through a worldwide collaborative effort. Methods: Cumulative percentiles of …

The Italian screening program for primary congenital hypothyroidism (CH) is an integrated
system including neonatal screening, diagnosis, treatment, follow-up, and nationwide …

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel
approach made possible by the collaboration of 154 laboratories in 49 countries. Methods…

The intestinal microbiota is a crucial regulator of human health and disease because of its
interactions with the immune system. Tobacco smoke also influences the human ecosystem …

Cellular toxicity mediated by lipids (lipotoxicity) has been implicated in the pathophysiology
of metabolic syndrome and diabetes mellitus. Genetic analyses now implicate lipotoxicity in …

Executive functions were studied in 14 early and continuously treated PKU subjects (age
10.8 years, range 8–13) in comparison with controls matched for IQ, sex, age and …

Objective: To gain insights into the nature and pathogenesis of white matter (WM) abnormalities
in PKU. Methods: Thirty-two patients with phenylalanine hydroxylase deficiency (21 with …

Leuzzi V, Carducci Ca, Carducci Cl, Pozzessere S, Burlina A, Cerone R, Concolino D,
Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N. Phenotypic …

The authors report a kindred in which GTP-CH deficiency resulted in a myoclonus–dystonia
syndrome. The proband, a 17-year-old boy, presented with early-onset myoclonus and later, …

Article abstract The authors describe an Italian child with guanidinoacetate methyltransferase
deficiency, neurologic regression, movement disorders, and epilepsy during the first year …