Modeling unknowns: A vision for uncertainty-aware machine learning in healthcare

Dynamics of Multisystem Inflammatory Syndrome in Children (MIS‑C) associated to COVID‑19: steady severity despite declining cases and new SARS‑CoV‑2 variants—a single‑center cohort study

Expanded Newborn Screening in Italy: The First Report of Lombardy Region

Beyond newborn screening: the role of reverse cascade testing in familial disease detection

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells

Gene expression analysis in subcutaneous adipose tissue reveals a predominant influence of lncRNAs during growth

AminoAcid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation

Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006–2019

Biochemical evidence of vitamin B12 deficiency: a crucial issue to address supplementation in pregnant women

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by NewbornScreening Confirming the Significance of C4OHElevation

Prediction of evolution to epilepsy or genetic epilepsy with febrile seizures plus (GEFS+) in children presenting with febrile seizures: a retrospective multicenter longitudinal study

Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Newborn Screening in Italy: Five Years’ Experience from a Nationwide Program

Vitamin B12 Deficiency and New Recommendations by the National Institute for Health and Care Excellence: A Challenging Clinical and Laboratory Topic