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Child: Care, Health and Development|February 14, 2023
Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative studyMarco Bani, Selena Russo, Erika Raggi, et al.
BMJ Paediatrics Open|December 12, 2024
Prevalence and predictors of parental distress at the communication of positivity at newborn screening for metabolic diseases: an Italian longitudinal studyMarco Bani, Selena Russo, Serena Gasperini, et al.
European Journal of Pediatrics|April 28, 2026
Perceived severity and parental distress after positive expanded newborn screening: parent-clinician concordance and dyadic processesMarco Bani, Selena Russo, Serena Gasperini, et al.
Gene|March 20, 2013
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohortFlavio Faletra, Emmanouil Athanasakis, Anna Morgan, et al.
Journal of Inherited Metabolic Disease|February 13, 2021
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?Sara Tucci, Christine Wagner, Sarah C Grünert, et al.
Transplantation Proceedings|August 3, 2023
Hyperammonemia Syndrome After Lung Transplantation: A Double-Hit Fatal Syndrome. A Case ReportValentina Cattaneo, Alessio Caccioppola, Sebastiano Maria Colombo, et al.
British Journal of Haematology|July 21, 2005
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantationPaola Corti, Charles Peters, Adriana Balduzzi, et al.
BMC Neurology|June 12, 2026
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case reportMariapia Griffo, Francesca Magri, Francesca Furlan, et al.
Muscle & Nerve|September 27, 2016
Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changesAnna Pichiecchio, Marta Rossi, Claudia Cinnante, et al.
Italian Journal of Pediatrics|November 17, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancyFrancesca Furlan, Attilio Rovelli, Miriam Rigoldi, et al.
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