Opinion paper

JIM 2025; 4 (2): e1052
DOI: 10.61012_202511_1052

Pegzilarginase and beyond: Italian real-world experience and proposal of innovative tools for comprehensive management of ARG1-D

Gasperini S.
Inherited Metabolic Disorders Unit, Department of Pediatrics, Fondazione San Gerardo dei Tintori IRCCS, Monza, Italy Close
ORCID , Martinelli D.
Inpatient Unit of Metabolic Diseases, Unit of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Research Hospital IRCCS, Rome, Italy
diego.martinelli@opbg.net Close
ORCID , Porta F.
Department of Clinical and Biological Sciences, University of Turin, Turin, Italy Close
ORCID

JIM 2025; 2 (4): e1056
DOI: 10.61012_202511_1056

Optimizing protein intake in urea cycle disorders: an expert opinion

Greco B.
Psychology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy Close
ORCID , Dianin A.
Pediatric Unit, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Verona, Italy Close
ORCID , Menni F.
Regional Clinical Center for Expanded Newborn Screening, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy Close
ORCID , Sacchini M.
Metabolic Diseases and Neuromuscular Unit, Neuroscience Department, IRCCS Meyer Children Hospital, Florence, Italy Close
ORCID , Salera S.
Regional Clinical Center for Expanded Newborn Screening, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy Close
, Taurisano R.
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy Close
ORCID , Tummolo A.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
ORCID , Sani E.
Division of Endocrinology, Diabetes and Metabolism, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy
elena.sani@univr.it Close
ORCID

JIM 2024; 1 (3): e593
DOI: 10.61012_20248_593

Therapeutic approach to pediatric patients with classic Fabry disease: towards a new paradigm

Spada M.
Department of Paediatrics, University of Turin, Turin, Italy
marco.spada@unito.it Close
ORCID , Burlina A.
Reference Centre Expanded Newborn Screening, University Hospital of Padua, Padua, Italy Close
ORCID , Donati M. A.
Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy Close
ORCID , Gasperini S.
Inherited Metabolic Unit Disorders, Paediatric Department, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Pession A.
Department of Medicine and Surgery, University of Bologna, Bologna, Italy Close
ORCID