JIM 2024; 1 (4): e634
DOI: 10.61012_202411_634

Acid sphingomyelinase deficiency: a complex and rare disorder that needs clinicians’ awareness

Alagia M.
Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy Close
ORCID , Cirillo E.
Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy Close
ORCID , Tarallo A.
Department of Translational Medicine, University of Naples "Federico II", Naples, Italy Close
ORCID , Del Toro Riera M.
Department of Pediatric Neurology, Metabolic Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain Close
ORCID , Parenti G.
Department of Maternal and Child Health, Federico II University Hospital, Naples, Italy
parenti@unina.it Close
ORCID

JIM 2024; 1 (4): e632
DOI: 10.61012_202411_632

Hereditary fructose intolerance in adults: from differential diagnosis to long-term management. A report from the Florence cohort

Biancalana E.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
edoardo.biancalana@unifi.it Close
ORCID , Pistolesi C.
Department of Health Science, University of Florence, Careggi University Hospital, Florence, Italy Close
, Duratti N.
Department of Health Science, University of Florence, Careggi University Hospital, Florence, Italy Close
, Paoli D.
Department of Health Science, University of Florence, Careggi University Hospital, Florence, Italy Close
, Pochiero F.
Neuroscience Department, Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy Close
, Sacchini M.
Neuroscience Department, Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy Close
, Bruni G.
Dietetic Unit, Meyer Children's Hospital IRCCS, Florence, Italy Close
ORCID , Morrone A.
Department of Neuroscience and Medical Genetics, Laboratory of Molecular Genetics of Neurometabolic Diseases, Meyer Children's Hospital IRCCS, Florence, Italy Close
, Ferri L.
Department of Neuroscience and Medical Genetics, Laboratory of Molecular Genetics of Neurometabolic Diseases, Meyer Children's Hospital IRCCS, Florence, Italy Close
ORCID , Tonin R.
Department of Neuroscience and Medical Genetics, Laboratory of Molecular Genetics of Neurometabolic Diseases, Meyer Children's Hospital IRCCS, Florence, Italy Close
, Funghini S.
Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's Hospital IRCCS, Florence, Italy Close
, Caciotti A.
Department of Neuroscience and Medical Genetics, Laboratory of Molecular Genetics of Neurometabolic Diseases, Meyer Children's Hospital IRCCS, Florence, Italy Close
ORCID , Nannoni A.
Department of Health Science, University of Florence, Careggi University Hospital, Florence, Italy Close
, Emmi G.
Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy Close
ORCID , Procopio E.
Neuroscience Department, Metabolic and Muscular Unit, Meyer Children's Hospital IRCCS, Florence, Italy Close
ORCID , Prisco D.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy Close
ORCID , Donati M. A.
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy Close
ORCID

JIM 2024; 1 (4): e630
DOI: 10.61012_202411_630

Galactosemia: insights into newborn screening strategies

Verrocchio S.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy
sara.verrocchio@unich.it Close
ORCID , Semeraro D.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Valentinuzzi S.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Tommolini M. L.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ferrante R.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Bucci I.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2024; 1 (4): e628
DOI: 10.61012_202411_628

The current use of alternative dietary protocols for glycogen storage disease type III among Italian dietitians

Pretese R.
Department of Pediatrics, SOU of Inherited Metabolic Diseases, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
roberta.pretese@irccs-sangerardo.it Close
ORCID , Tavian A.
SOSD Technical Health Care Professions - Dietitian and Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy Close
ORCID , Ierardi M. P.
UO Nutritional Center, Pediatric Institute IRCCS Gaslini, Genoa, Italy Close
, Bernabei S. M.
Rome SITRA Department of Nutrition, Bambino Gesù Children's Hospital IRCCS, Rome, Italy Close
ORCID , Bonfanti C.
Department of Pediatrics, SOU of Inherited Metabolic Diseases, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Bordugo A.
Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, ASUFC, Udine, Italy Close
ORCID , Carella R.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
, Cipriani A.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
, De Leo S.
Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome – Policlinico Umberto I, University Hospital, Rome, Italy Close
, Ferraro S.
Pediatric Unit, Department of Health Sciences, University "Magna Graecia of Catanzaro", Catanzaro, Italy Close
, Francini F.
Clinical Nutrition Unit, University Hospital, University of Padua, Padua, Italy Close
, Gentilucci M.
Department of Pediatrics, “Santo Spirito” Hospital of Pescara, Pescara, Italy Close
, Giorda S.
Department of Pediatrics, Metabolic Diseases, University of Turin, Turin, Italy Close
, Loro C.
Pediatric Unit, Department of Health Sciences, University "Magna Graecia of Catanzaro", Catanzaro, Italy Close
, Massimino E.
Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy Close
ORCID , Paci S.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo E Carlo, University of Milan, Milan, Italy Close
ORCID , Pancaldi C.
Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Bologna, Italy Close
, Pozzoli A. I.
Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy Close
, Salera S.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan, Italy Close
, Parolisi S.
UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Naples, Italy Close
ORCID , on behalf of SIMMESN Working Group for Dietetic and Nutrition
Bologna, Italy Close

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

JIM 2024; 1 (3): e595
DOI: 10.61012_20248_595

An overview of current dietary options for patients with glycogen storage diseases: impact on gut microbiota and oxy-inflammatory status

Montanari C.
Department of Pediatrics, Vittore Buzzi Children’s Hospital, University of Milan, Milan, Italy Close
ORCID , Parolisi S.
UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Naples, Italy Close
, Tosi M.
Department of Pediatrics, Vittore Buzzi Children’s Hospital, University of Milan, Milan, Italy Close
ORCID , Carbone M. T.
UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Naples, Italy
mt.carbone@santobonopausilipon.it Close
ORCID

JIM 2024; 1 (3): e597
DOI: 10.61012_20248_597

Spinal muscular atrophy and the impact of newborn screening in patient management: a narrative review

Rinaldi L.
Child Neuropsychiatry Unit, University Hospital of Verona, Verona, Italy
livia.rinaldi@studenti.univr.it Close
ORCID , Rodella G.
Pediatric Unit, University Hospital of Verona, Verona, Italy Close
ORCID , Rubert L.
Pediatric Unit, University Hospital of Verona, Verona, Italy Close
ORCID , Bordugo A.
Regional Centre for Rare Diseases, University Hospital of Udine, Udine, Italy Close
ORCID , Rigotti E.
Pediatric Unit, University Hospital of Verona, Verona, Italy Close
ORCID , Pietrobelli A.
Pediatric Unit, University Hospital of Verona, Verona, Italy Close
ORCID , Cantalupo G.
Child Neuropsychiatry Unit, University Hospital of Verona, Verona, Italy Close
ORCID

JIM 2024; 1 (3): e590
DOI: 10.61012_20248_590

Potential approaches for the treatment of Marinesco–Sjögren syndrome

Viele M.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ruggieri A. G.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Bellia F.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Potenza F.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Amodei L.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Sallese M.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
michele.sallese@unich.it Close
ORCID

JIM 2024; 1 (3): e588
DOI: 10.61012_20248_588

Investigating the current state of the Italian workforce in the context of inherited metabolic diseases: an in-depth survey of dietitians across the country

Gugelmo G.
Department of Medicine, Division of Metabolic Diseases, University Hospital of Padua, Padua, Italy
giorgia.gugelmo@unipd.it Close
ORCID , Berchielli F.
Division of Pediatrics, S. Chiara General Hospital, APSS, Trento, Italy Close
ORCID , Bonfanti C.
Pediatric Department, Metabolic Rare Disease Unit, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Cipriani A.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
ORCID , Fasan I.
Department of Medicine – DIMED, University Hospital of Padua, Padua, Italy Close
, Bernabei S. M.
Department SITRA, Nutritional Rehabilitation Unit, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy Close
, Ferraro S
Department of Health Sciences, Pediatric Unit, Magna Graecia University of Catanzaro, Catanzaro, Italy Close
, Finizii A.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Milan, Italy Close
, Gentilucci M.
Department of Pediatrics, “Santo Spirito” Hospital of Pescara, Pescara, Italy Close
, Giorda S.
Department of Pediatrics, Metabolic Diseases, University of Turin, Turin, Italy Close
, Loro C.
Department of Medicine – DIMED, University Hospital of Padua, Padua, Italy Close
ORCID , Pancaldi C.
Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Bologna, Italy Close
, Parolisi S.
UOSD Metabolic Diseases, AORN Santobono-Pausilipon, Naples, Italy Close
, Pontillo L.
Nutritional Center, Giannina Gaslini Pediatric Institute, IRCCS (Scientific Institute for Research, Hospitalization, and Healthcare), Genoa, Italy Close
, Pretese R.
Pediatric Department, Metabolic Rare Disease Unit, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Quattrini S.
Department of Pediatrics, Polytechnic University of Marche, Ancona, Italy Close
ORCID , Re Dionigi A.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Milan, Italy Close
ORCID , Regazzi M. G.
Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Bologna, Italy Close
ORCID , Rossi A.
Clinical Nutrition and Metabolism Unit, IRCCS AOUBO, Bologna, Italy Close
, Salera S.
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan, Italy Close
, Tosi M.
Department of Health Sciences, University of Milan, Milan, Italy Close
ORCID , Favaro A.
Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Pediatric Unit C, University Hospital of Verona, Verona, Italy Close
, Paterno G.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
ORCID , Carella R.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
, Massimino E.
Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy Close
ORCID , Pistolesi C.
Dietetic Unit, Careggi University Hospital, Florence, Close
, Duratti N.
Dietetic Unit, Careggi University Hospital, Florence, Italy Close
, Tavian A.
SOSD Technical Health Care Professions - Dietitian and Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy Close
, Pozzoli A.
Pediatric and Neonatology Unit, Regional Referral Clinical Center for Inborn Errors of Metabolism, Guglielmo Da Saliceto Hospital, Piacenza, Italy Close
, La Fata S.
CRR Malattie Metaboliche Ereditarie per la Sicilia Occidentale, Pediatric Clinic, ARNAS Civico Di Cristina Benfratelli, Palermo, Italy Close
, Ierardi M. P.
Nutritional Center, Giannina Gaslini Pediatric Institute, IRCCS (Scientific Institute for Research, Hospitalization, and Healthcare), Genoa, Italy Close
, Bosetti A.
Department of Pediatrics, Centro di Nutrizione Clinica, Diabetologia e MME, Vittore Buzzi Children’s Hospital, Milan, Italy Close
ORCID , De Leo S.
Department of Human Neuroscience, Sapienza University of Rome, University Hospital Policlinico Umberto I, Rome, Italy Close
, Zuvadelli J.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Milan, Italy Close
ORCID , Bruni G.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
ORCID , Dianin A.
Regional Centre 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

JIM 2024; 1 (3): e586
DOI: 10.61012_20248_586

Eye movement desensitization and reprocessing treatment: new psychotherapeutic perspectives in the context of metabolic diseases

Carcereri M. S.
Inherited Metabolic Disease Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Disease and Congenital Endocrine Disease, Azienda Ospedaliera Universitaria Integrata Borgo Trento, Verona, Italy Close
, Vissani S.
Pediatric Unit, Program of Endocrine Metabolic Disease, University of Bologna, IRCCS Sant’Orsola-Malpighi University Hospital, Bologna, Italy
sofia.vis.psy@gmail.com Close