JIM 2026; 3 (3): e1211
DOI: 10.61012/JIM_202608_1211

How reliable are large language models in metabolic dietetics? a cross-sectional benchmarking evaluation

Tosi M.
Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children’s Hospital, Milan, Italy
martina.tosi@unimi.it Close
ORCID , Muscarella M.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
ORCID , Gugelmo G.
Division of Metabolic Diseases, Department of Medicine, University Hospital of Padua, Padua, Italy Close
ORCID , Pinto A.
Department of Dietetics, Birmingham Women's and Children’s Hospital, Birmingham, UK Close
ORCID , Suárez González M.
Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain Close
ORCID , Poloni S.
Nutrition and Dietetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil Close
ORCID , Höller A.
Division of Nutrition and Dietetics, University Hospital Innsbruck, Innsbruck, Austria Close
ORCID , Perico V.
Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy Close
ORCID , Favaro A.
Regional Center for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Pediatric Unit C, University Hospital of Verona, Verona, Italy Close
ORCID , Tavian A.
SOSD Technical Health Care Professions – Dietitian and Regional Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy Close
ORCID , Belvedere A.
Independent AI Researcher, Verona, Italy Close
ORCID , Dianin A.
Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy Close
ORCID

JIM 2026; 3 (3): e1207
DOI: 10.61012/JIM_202608_1207

Enzyme replacement therapy for lysosomal storage diseases: learning from the past to shape the future

Fecarotta S.
Department of Translational Medical Sciences, Federico II University, Naples, Italy Close
ORCID , Tarallo A.
Department of Translational Medical Sciences, Federico II University, Naples, Italy Close
ORCID , Parenti G.
Department of Translational Medical Sciences, Federico II University, Naples, Italy
parenti@unina.it Close
ORCID

JIM 2026; 3 (3): e1209
DOI: 10.61012/JIM_202608_1209

Communication challenges in newborn screening: what the public knows (and doesn’t)

Costanzo M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Bianco S.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Caterino M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Cevenini A.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Cozzolino M.
CEINGE–Biotecnologie Avanzate Franco Salvatore, Naples, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, Padua, Italy Close
ORCID , Bani M.
Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy Close
ORCID , Ruoppolo M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy
margherita.ruoppolo@unina.it Close
ORCID

JIM 2026; 3 (3): e1215
DOI: 10.61012/JIM_202608_1215

Mind the bias: mapping and mitigating cognitive errors across the expanded newborn screening pathway

Russo S.
School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy Close
ORCID , Gasperini S.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Crescitelli V.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Faraguna M. C.
School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy Close
, Pretese R.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Bonfanti C.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Gigante S.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Pozzi K.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Cerizza A.
Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , La Marca G.
Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Laboratory, Meyer Children’s Hospital IRCCS, Florence, Italy Close
ORCID , Bani M.
School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy
marco.bani1@unimib.it Close
ORCID

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