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; 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 2025; 2 (4): e1058
DOI: 10.61012_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): 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

JIM 2025; 2 (3): e996
DOI: 10.61012_20258_996

Ten-year experience of newborn screening for glutaric aciduria type 1 in northeast Italy: successes, challenges and unexpected findings

Gragnaniello V.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Puma A.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Gueraldi D.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Loro C.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Porcù E.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , D’Errico I.
Neuroradiology Unit, University Hospital of Padua, Padua, Italy Close
, Salviati L.
Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, Padua, Italy Close
ORCID , Burlina A. B.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy
alberto.burlina@unipd.it Close
ORCID

JIM 2025; 2 (3): e998
DOI: 10.61012_20258_998

Exploring neuropathic pain in Fabry Disease: a review of pathogenesis, diagnostic pitfalls and management starting from clinical cases

Cappozzo F.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy Close
ORCID , La Rosa A.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Schiaffino M. C.
Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Perri F. N.
Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
, Gandullia P.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Madeo A.
Pediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
annalisamadeo@gaslini.org Close
ORCID

JIM 2025; 2 (3): e1001
DOI: 10.61012_20258_1001

Biogenic amines in phenylketonuria: a narrative review

De Giorgi A.
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy Close
ORCID , Pascucci T.
Department of Psychology and Centro “Daniel Bovet", Sapienza University of Rome, Rome, Italy Close
ORCID , Fiori E.
Technopole Foundation, Rome, Italy Close
ORCID , Leuzzi V.
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy Close
ORCID , Nardecchia F.
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
francesca.nardecchia@uniroma1.it Close
ORCID

JIM 2025; 2 (3): e1003
DOI: 10.61012_20258_1003

Potential applications of digital health technologies in adults with inherited metabolic disorders

Gugelmo G.
Division of Metabolic Diseases, Department of Medicine-DIMED, University Hospital, Padua, Italy Close
ORCID , Chesini F.
Internal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Verona, Italy Close
, Lenzini L.
Department of Medicine-DIMED, University of Padua, Padua, Italy Close
ORCID , Vitturi N.
Division of Metabolic Diseases, Department of Medicine-DIMED, University Hospital, Padua, Italy Close
ORCID , Girelli D.
Internal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Verona, Italy Close
ORCID , Marchi G.
Internal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Verona, Italy
giacomo.marchi@aovr.veneto.it Close
ORCID

JIM 2025; 2 (3): e1005
DOI: 10.61012_20258_1005

The effects of neonatal nutrition on 17-α-hydroxyprogesterone levels in classic congenital adrenal hyperplasia screening: a retrospective study

Tommolini M. L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
maria.tommolini@unich.it Close
ORCID , Frisco A.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Di Carlo G.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Natale L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Petruccioli R.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Semeraro D.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Verrocchio S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Foley D.
Waters Corporation, Wilmslow, United Kingdom Close
, Chiavaroli V.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Di Valerio S.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Valentinuzzi S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2025; 2 (3): e1007
DOI: 10.61012_20258_1007

Survey on dietetic expertise and clinical application of the ketogenic diet in Italy: what professional resources are available for inherited metabolic disorders?

Guglielmetti M.
Ketogenic Metabolic Therapy Laboratory, Department of Public Health, Forensic and Experimental Medicine, University of Pavia, Pavia, Italy
monica.guglielmetti@unipv.it Close
ORCID , Nurti R.
Pediatric Clinical Nutrition Service, UOC Intensive Care Unit and Neonatal Pathology Neonatal Care, Department of Women’s and Children’s Health, Padova University Hospital, Padova, Italy Close
ORCID , Lessa C.
ASST Nord Milano, Corporate Dietary Service, Sesto San Giovanni (MI), Italy Close
ORCID , Cipriani A.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
, Troiano E.
Socio-Educational Services Department, Municipality Rome III; Scientific Association for Food, Nutrition, and Dietetics (ASAND), Close
ORCID , De Amicis R.
Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy Close
ORCID

JIM 2025; 2 (Suppl 1): e951
DOI: 10.61012_20257_951

Why re-think dietary treatment in PKU?

Rovelli V.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy
valentina.rovelli@asst-santipaolocarlo.it Close
ORCID , Zuvadelli J.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Re Dionigi A.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Finizii A.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
, Selmi R.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
, Paci S.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Cefalo G.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close
ORCID , Banderali G.
Department of the Mother and the Child, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy Close