Inherited Metabolic Diseases in Paediatric Age

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): 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 (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 (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 (1): e458
DOI: 10.61012_20242_458

Biotinidase deficiency: outcomes of 37 years-experience of newborn screening in Turin, Italy

Bracci B.
Department of Pediatrics, AOU Città della Salute e della Scienza, Turin, Italy
beatrice.bracci@unito.it Close
ORCID , Mala D.
Department of Pediatrics, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID , Pavanello E.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID , Sauro P.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID , Mussa A.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID , Guaraldo V.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID , Spada M.
Department of Pediatrics, AOU Città della Salute e della Scienza, Turin, Italy Close
ORCID