All Stories

  1. Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature

    Article • Journal of Pediatric Endocrinology and Metabolism, February 2019, De Gruyter

    Francesco Porta

  2. Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2019, De Gruyter

    Francesco Porta

  3. Early higher dosage of alglucosidase alpha in classic Pompe disease

    Article • Journal of Pediatric Endocrinology and Metabolism, December 2018, De Gruyter

    Francesco Porta

  4. Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism

    Article • Nephrology, September 2018, Wiley

    Enrico Cocchi, Francesco Porta

  5. Playing competitive basketball in face of late-onset pompe disease

    Article • Muscle & Nerve, December 2014, Wiley

    Francesco Porta

  6. Weaning the normal infant

    Article • Acta Paediatrica, January 2014, Wiley

    Francesco Porta