Original article

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): 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 (2): e920
DOI: 10.61012_20255_920

Advancing newborn screening in Spain: a consensus-based proposal for a uniform panel

García-Villoria J.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain
jugarcia@clinic.cat Close
ORCID , Delgado-Pecellín C.
Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Sevilla (IBiS/CSIC), Sevilla, Spain Close
, López R. M.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain Close
, González-Lamuño D.
Department of Medical and Surgery Sciences, School of Medicine-IDIVAL, Universidad de Cantabria-Hospital M. Valdecilla, Santander, Spain
domingo.gonzalez-lamuno@unican.es Close
ORCID , On behalf of the Neonatal Screening Study Group of AECOM
The members of the Neonatal Screening Study Group of AECOM are presented in the Authors’ Contributions section Close

JIM 2025; 2 (2): e918
DOI: 10.61012_20255_918

Access to life-saving foods for special medical purposes for patients with inherited metabolic disorders: a national survey of Italian dietitians

Gentilucci M.
Nutrition Unit, Local Health Authority of Pescara, Pescara, Italy
mica.gentilucci@gmail.com Close
ORCID , Salera S.
Regional Centre for Newborn Screening, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy Close
, Massimino E.
Department of Clinical Medicine and Surgery, Federico II University, Via Sergio Pansini 5, Naples, Italy Close
ORCID , Pistolesi C.
Dietetic Unit, Careggi University Hospital, Florence, Italy Close
, Paterno G.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Bari, 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
ORCID , On behalf of SIMMESN Working Group for Dietetic and Nutrition
Close

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): 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): 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 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): 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): 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 (2): e541
DOI: 10.61012_20245_541

Selective screening vs. neonatal screening in infantile onset Pompe disease: a case series

Gragnaniello V.
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 , Puma A.
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 , Velasquez D.
Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy Close
, Maines E.
Division of Pediatrics, S. Chiara General Hospital, Trento, Italy Close
ORCID , Lupi A.
Institute of Radiology, Department of Medicine - DIMED, University Hospital of Padua, Padua, Italy Close
ORCID , Pepe A.
Institute of Radiology, Department of Medicine - DIMED, University Hospital of Padua, Padua, Italy Close
ORCID , Di Salvo G.
Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital of Padua, Padua, Italy Close
ORCID , Salviati L.
Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy Close
ORCID , Burlina A.
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 2024; 1 (2): e539
DOI: 10.61012_20245_539

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
ORCID , Postoli E.
Neonatology Division, Hygeia International Hospital, Tirana, Albania Close
ORCID , Cullufi P.
Pediatrics Department, University Hospital "Mother Teresa", Tirana, Albania Close
ORCID , Santoro L.
Pediatrics Clinic, Ospedali Riuniti, Presidio Salesi, Ancona, Italy Close
ORCID , Crisci D.
CEINGE Biotecnologie Avanzate, Naples, Italy Close
, Sidira C. M.
Consultant in Paediatric Metabolic Medicine, Thessaloniki, Greece Close
ORCID , 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
ORCID , Grafakou O.
Department of Pediatrics, IEM Clinic, Archbishop Makarios III Hospital, SHSO Services, Nicosia, Cyprus Close
ORCID

JIM 2024; 1 (2): e532
DOI: 10.61012_20245_532

Special low protein foods in the management of Inborn Errors of Metabolism: overview on availability, composition and comparison with regular foods in Italy

Salera S.
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan, Italy
simona.salera@policlinico.mi.it Close
ORCID , Coacci S.
UOSD Diabetology, AST Fermo, Fermo, Italy Close
ORCID , Cipriani A.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
, Gentilucci M.
Department of Pediatrics, “Santo Spirito” Hospital of Pescara, Pescara, Italy Close
, Pierattini V.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close

Topic: Dietetics   Category:

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