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

JIM 2025; 2 (Suppl 1): e954
DOI: 10.61012_20257_954

Assessment of executive functions, adaptive skills, emotional and behavioral outcomes from pediatric age to adulthood in patients with PKU: a systematic review

Gaiga G.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy Close
ORCID , Carretta J.
Neurology Unit, St. Bassiano Hospital, Bassano del Grappa, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy
chiara.cazzorla@aopd.veneto.it Close
ORCID

JIM 2025; 2 (Suppl 1): e956
DOI: 10.61012_20257_956

Diet in patients with phenylketonuria treated with pegvaliase: a narrative review on the state-of-the-art and challenges

Stecchi M.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Sbrega F.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Baldo C.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Santoni M.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Mita D.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy Close
ORCID , Brodosi L.
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
lucia.brodosi2@unibo.it Close
ORCID

JIM 2025; 2 (Suppl 1): e958
DOI: 10.61012_20256_958

Adult phenylketonuria: transition management and follow-up

Verrecchia E.
Department of Aging, Orthopaedic and Rheumatological Sciences, A. Gemelli Policlinic Foundation IRCCS, Rome, Italy Close
ORCID , Sicignano L. L.
Department of Aging, Orthopaedic and Rheumatological Sciences, A. Gemelli Policlinic Foundation IRCCS, Rome, Italy Close
ORCID , Siri B.
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy Close
ORCID , Taurisano R.
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy Close
ORCID , Gagliardo C. M.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy Close
ORCID , Giammanco A.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy Close
ORCID , Noto D.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Palermo, Italy
notoddd@gmail.com Close
ORCID

JIM 2025; 2 (2): e924
DOI: 10.61012_20255_924

A diagnostic x-ray in a newborn with skeletal abnormalities: a rare case of mucolipidosis type 2

Maines E.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy
evelina.maines@apss.tn.it Close
ORCID , Cardellini M. C.
Division of Neonatology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, D’Onofrio D.
Division of Neonatology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Zardini S.
Division of Obstetrics and Gynecology, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Rivieri F.
Division of Medical Genetics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Antoniazzi F.
Regional Center for the Diagnosis and Treatment of Children and Adolescents with Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy Close
ORCID , Zoller T.
Regional Center for the Diagnosis and Treatment of Children and Adolescents with Rare Skeletal Disorders, Pediatric Clinic, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy Close
, Michot C.
Centre de Référence des Maladies Osseuses Constitutionnelles, Necker-Enfants Malades Hospitals, Paris, France Close
, Soffiati M.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
, Franceschi R.
Division of Pediatrics, S. Chiara General Hospital, Azienda Provinciale per i Servizi Sanitari, Trento, Italy Close
ORCID

JIM 2025; 2 (2): e922
DOI: 10.61012_20255_922

Primary lipid myopathies: a narrative review

Risi B.
NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy Close
ORCID , Caria F.
NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy Close
, Poli L.
ERN EURO-NMD Center ASST Spedali Civili, Brescia, Italy Close
ORCID , Padovani A.
ERN EURO-NMD Center ASST Spedali Civili, Brescia, Italy Close
ORCID , Filosto M.
NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy
massimiliano.filosto@unibs.it Close
ORCID