JIM 2025; 2 (1): e712
DOI: 10.61012_20252_712

Adolescent perceptions of healthcare services for inherited metabolic disorders and genetic diseases: insights from a survey in a pediatric hospital

Tummolo A.
Department of Metabolic Diseases, Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy
albina.tummolo@policlinico.ba.it Close
ORCID , Stellacci A.
Section of Legal Medicine, Interdisciplinary Department of Medicine, Bari Policlinico Hospital, University of Bari "Aldo Moro", Bari, Italy Close
ORCID , Massari G.
Presidio Ospedaliero Di Venere, ASL Bari, Bari, Italy Close
, De Giovanni D.
Department of Metabolic Diseases, Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
, Abbasciano V.
Interdisciplinary Department of Medicine, Aldo Moro University of Bari, Bari, Italy Close
, Martinelli A.
Health Prevention Department, Local Health Authority of Bari, Bari, Italy Close
, Dario R.
A.U.O.C., Policlinico di Bari, Bari, Italy Close
, Melpignano L.
A.U.O.C., Policlinico di Bari, Bari, Italy Close
ORCID

JIM 2025; 2 (1): e709
DOI: 10.61012_20252_709

Genotype and phenotype of subjects with Tangier disease developing cardiovascular disease

Lenzini L.
Department of Medicine-DIMED, University of Padua, Padua, Italy Close
ORCID , Tresso S.
Endocrinology, Metabolic Disease and Nutrition, Dell’Angelo Hospital, ULSS3, Mestre, Italy Close
, Avogaro A.
Division of Metabolic Diseases, Department of Medicine-DIMED, University Hospital, Padua, Italy Close
ORCID , Vitturi N.
Division of Metabolic Diseases, Department of Medicine-DIMED, University Hospital, Padua, Italy
nicola.vitturi@aopd.veneto.it Close
ORCID

JIM 2025; 2 (1): e707
DOI: 10.61012_20252_707

Changes in the care of patients with lysosomal storage diseases in the post-COVID-19 era

Piovani P.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy
paola.piovani@asufc.sanita.fvg.it Close
, Epifani E.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Migli L.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Scapin A.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Bon M.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
ORCID

JIM 2025; 2 (1): e705
DOI: 10.61012_20252_705

A multidisciplinary biochemical and genetic approach for the diagnosis of congenital adrenal hyperplasia: a pediatric case

Ranaudo M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Dell’Elice A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Navicella A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy
aurora.navicella@studenti.unich.it Close
, Minelli M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Tommolini M. L.
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 , Ferrante R.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Mohn A.
Department of Pediatrics, G. D’Annunzio University of Chieti-Pescara, Chieti, Italy Close
ORCID , Gatta V.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2025; 2 (1): e702
DOI: 10.61012_20252_702

Ensuring the right to adequate school menu for children with metabolic or ketogenic diets: a national survey of clinical and food service dietitians

Tosi M.
Department of Health Sciences, University of Milan, Milan, Italy
martina.tosi@unimi.it Close
ORCID , Guglielmetti M.
Ketogenic Metabolic Therapy Laboratory, Department of Public Health, Forensics and Experimental Medicine, University of Pavia, Pavia, Italy Close
ORCID , Marchi G.
Servizio Educazione e Istruzione, Comune di Pistoia, Pistoia, Italy Close
, Gentilucci M.
Nutrition Unit, Local Health Authority of Pescara, Pescara, Italy Close
ORCID , Gugelmo G.
Department of Medicine, Division of Metabolic Diseases, University Hospital of Padua, Padua, Italy Close
ORCID , De Amicis R.
International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, 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 , Troiano E.
Social Educational Directorate of Rome III, Montesacro Municipality, Rome, Italy Close
ORCID , 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 , (ASAND) On behalf of Technical Scientific Association of Food, Nutrition and Dietetics
Close
, (SIMMESN) Italian Society for the Study of Inborn Errors of Metabolism and Newborn Screening
Close

JIM 2025; 2 (1): e700
DOI: 10.61012_20252_700

The role of paternal engagement in phenylketonuria: exploring psychological outcomes in children

Gaiga G.
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital of Padua, Padua, Italy
giacomo.gaiga@aopd.veneto.it Close
, Gazzera A.
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital of Padua, Padua, Italy Close

JIM 2025; 2 (1): e685
DOI: 10.61012_20252_685

Author Correction – Newborn screening, diagnosis, and management of inherited metabolic disorders: status and progress of the southern mediterranean countries

Porcù E.
Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy
elena.porcu@aopd.veneto.it Close
, Postoli E.
Neonatology Division, Hygeia International Hospital, Tirana, Albania Close
, Cullufi P.
Pediatrics Department, University Hospital "Mother Teresa", Tirana, Albania Close
, Santoro L.
Pediatrics Clinic, Ospedali Riuniti, Presidio Salesi, Ancona, Italy Close
, Crisci D.
CEINGE Biotecnologie Avanzate, Naples, Italy Close
, Sidira C. S.
Consultant in Paediatric Metabolic Medicine, Thessaloniki, Greece Close
, Augoustides-Savvopoulou P.
Medical Faculty, Aristotle University of Thessaloniki, Thessaloniki, Greece Close
, Skouma A.
Department of Newborn Screening, Institute of Child Health – Medical Division, Athens, Greece Close
, Grafakou O.
Department of Pediatrics, IEM Clinic, Archbishop Makarios III Hospital, SHSO Services, Nicosia, Cyprus Close

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