JIM 2026; 3 (2): e1169
DOI: 10.61012/JIM_202605_1169

Newborn screening for hypergalactosemia: a 42-year single-center experience in Italy

Bracci B.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy
beatrice.bracci@unito.it Close
ORCID , Della Croce di Dojola M.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Saraceno E.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Pavanello E.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Pagliardini V.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID

JIM 2026; 3 (2): e1171
DOI: 10.61012/JIM_202605_1171

External quality assurance in newborn screening: design, implementation, and outcomes of the SIMMESN program

Funghini S.
Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Lab, Meyer Children’s Hospital IRCCS, Florence, Italy
s.funghini@meyer.it Close
ORCID , Rizzo C.
Metabolic Diseases and Hepatology Unit, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy Close
ORCID , Guaraldo V. E.
Prenatal and Newborn Screening Service, Clinical Biochemistry Unit, City of Health and Science University Hospital of Turin, Turin, Italy Close
ORCID , Alberti L.
Department of Laboratory Medicine and Diagnostic Biotechnology, Laboratory Chemical Chemistry, Hospital of Legnano, Milan, Italy Close
ORCID , Perrone Donnorso M.
Pediatric Clinic Unit, Endocrinology Division, DINOGMI, University of Genoa, Genoa, Italy Close
ORCID , Santagata S.
Clinical Pathology Unit, Newborn Screening Center, Policlinico Umberto I University Hospital, Rome, Italy Close
ORCID , Simonetti S.
Clinical Pathology and Newborn Screening Unit, Giovanni XXIII University Hospital, Bari, Italy Close
ORCID , Carducci C.
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy Close
ORCID

JIM 2026; 3 (2): e1174
DOI: 10.61012/JIM_202605_1174

Effects of a relaxed diet on branched-chain amino acids trends in a patient with classic maple syrup urine disease

Pretese R.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
roberta.pretese@irccs-sangerardo.it Close
ORCID , Bonfanti C.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Faraguna M. C.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Crescitelli V.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Commone A.
SSD Rare Diseases, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Pozzi K.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Gigante S.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Cerizza A.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Gasperini S.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID

JIM 2026; 3 (1): e1119
DOI: 10.61012_20262_1119

Medical management and long-term outcome in classical ethylmalonic encephalopathy: insights from a prolonged follow-up

Verde A.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Milan, Italy Close
ORCID , Alagia M.
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy Close
, Zuppaldi C.
Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy Close
, Sibilio M.
UOSD Metabolic Diseases, Department of General and Emergency Pediatrics, Santobono-Pausilipon Children’s Hospital, AORN, Naples, Italy Close
, Terrone G.
Child Neurology and Psychiatry Unit, Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy
gaetano.terrone@unina.it Close
ORCID

JIM 2026; 3 (1): e1121
DOI: 10.61012_20262_1121

From red flags to diagnosis: a hepatologist’s guide to Gaucher disease and acid sphingomyelinase deficiency in adults – insights from the Italian “Closer to Care” initiative

Nascimbeni F.
Operating Unit of Internal Medicine and Metabolism, Civil Hospital of Baggiovara, AOU of Modena, Modena, Italy
fabio.nascimbeni@unimore.it Close
ORCID , Zizzo C.
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), Palermo, Italy Close
ORCID , Armandi A.
Division of Gastroenterology and Hepatology, Department of Medical Sciences, A.O. Città della Salute e della Scienza di Torino, University of Turin, Turin, Italy Close
ORCID , Barbaro E.
Division of Internal Medicine, Hepatobiliary and Immunoallergic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy Close
, Cicco A.
Centro C.U.R.E., Unità di Epatologia, Università di Foggia, Foggia, Italy Close
, Claar E.
Liver Unit, Ospedale Evangelico Betania, Napoli, Italy Close
, Cufone S.
ASP CS Distretto Tirreno e Ionio Nord, Cosenza, Italy Close
, Dalbeni A.
General Medicine C & Liver Unit, Department of Medicine, University of Verona, Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy Close
ORCID , Ferronato M.
Internal Medicine and Rheumatological Diseases Unit, Department of Digestive, Hepatic, Endocrine and Metabolic Diseases, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy Close
ORCID , Gitto S.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy Close
ORCID , Manzoni N.
SSD Epatologia e Medicina Interna, AOU Sassari, Sassari, Italy Close
, Masetti C.
Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Italy Close
, Pastori D.
Department of Medical and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy Close
, Scribano L.
Gastroenterology Unit, S. Antonio Hospital, Azienda Ospedale-Università Padova, Padova, Italy Close
, Shahini E.
Gastroenterology Unit, National Institute of Gastroenterology IRCCS “S. de Bellis”, Castellana Grotte, Bari, Italy Close
ORCID , Staiano L.
Unit of Hepatology and Interventional Ultrasonography, Department of Internal Medicine, OORR Area Stabiese, Gragnano, Italy Close
, Terreni N.
Department of Gastroenterology, Valduce Hospital, Como, Italy Close
, Torre P.
Internal Medicine and Hepatology Unit, Department of Medicine, Surgery and Dentistry, “Scuola Medica Salernitana”, University of Salerno, Salerno, Italy Close
ORCID , Vukotic R.
Hepatology Unit and Laboratory of Molecular Genetics and Pathology of Hepatitis Viruses, Reference Center of the Tuscany Region for Chronic Liver Disease and Cancer, Department of Medical Specialties, University Hospital of Pisa, Pisa, Italy Close
, Carubbi F.
Operating Unit of Internal Medicine and Metabolism, Civil Hospital of Baggiovara, AOU of Modena, Modena, Italy Close
, On behalf of the “GD & ASMD – Closer to Care” Working Group
The members of the “GD & ASMD – Closer to Care” Working Group are presented in the Acknowledgements Close

JIM 2026; 3 (1): e1123
DOI: 10.61012_20262_1123

Bone complications in Gaucher disease: a narrative review

Belinazzi G.
University of Udine, Udine, Italy, Close
, Salcuni A. S.
Endocrinology Unit, University Hospital of Udine, Udine, Italy Close
ORCID , Epifani E.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Zanatta M.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Falchetti A.
Endocrinology Unit, University Hospital of Udine, Udine, Italy Close
, Vescini F.
Endocrinology Unit, University Hospital of Udine, Udine, Italy Close
ORCID , Bon M.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy
martina.bon@asufc.sanita.fvg.it Close
ORCID

JIM 2026; 3 (1): e1125
DOI: 10.61012/JIM_202602_1125

Unveiling gut microbiota signatures linked to the ketogenic dietary therapy

Tosi M.
Department of Pediatrics, Vittore Buzzi Children’s Hospital, Milan, Italy Close
ORCID , Montanari C.
Department of Pediatrics, Vittore Buzzi Children’s Hospital, Milan, Italy
chiara.montanari@unimi.it Close
ORCID , Parolisi S.
Simple Operational Unit for Metabolic Diseases, Department of General and Emergency Pediatrics, AORN Santobono Pausilipon, Napoli, Italy Close
ORCID , Bonfanti C.
Department of Pediatrics, IRCCS San Gerardo dei Tintori Foundation, Monza, Italy Close
ORCID , Barone R.
Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy Close
ORCID , Putignani L.
Unit of Microbiomics and Unit of Research of Microbiome, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy Close
ORCID , Carbone M. T.
Simple Operational Unit for Metabolic Diseases, Department of General and Emergency Pediatrics, AORN Santobono Pausilipon, Napoli, Italy Close
ORCID , Borghi E.
Department of Health Sciences, University of Milan, Milan, Italy Close
ORCID

JIM 2025; 2 (4): e1058
DOI: 10.61012/JIM_202511_1058

Nutrition in rare cardiomyopathies: from supportive care to targeted therapy

Dongiglio F.
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, Naples, Italy Close
ORCID , Esposito D.
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Close
ORCID , Palmiero G.
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, Naples, Italy Close
ORCID , Bobbio E.
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, Naples, Italy Close
ORCID , Limongelli G.
Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania ‘Luigi Vanvitelli’, Monaldi Hospital, Naples, Italy
giuseppe.limongelli@unicampania.it Close
ORCID

JIM 2025; 2 (4): e1050
DOI: 10.61012_202511_1050

Nursing perspectives on inherited metabolic disorders: experience and educational needs in an Italian hospital setting

Gigante S.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
silvia.gigante@irccs-sangerardo.it Close
ORCID , Pozzi K.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Sisti V. B.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Cerizza A.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Pretese R.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Crescitelli V.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close

JIM 2025; 2 (4): 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 2025; 2 (4): e1060
DOI: 10.61012_202511_1060

Describing the self-reported cognitive and emotional functioning of adult patients with urea cycle disorders

Capuozzo P.
Psychology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
pasqualecapuozzo@gaslini.org Close
ORCID , Lanzafame G. M.T.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID , Meli C.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
, Schiaffino M. C.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Pessano S.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Perri F. N.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
, Salvatori B.
Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Venturino C.
Psychology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Arena A. C.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID , Ruggieri M.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID