Clinical Medicine

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): 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 (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

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): 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