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

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): 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