Clinical Medicine

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 (2): e537
DOI: 10.61012_20245_537

Supportive care in adults with Fabry disease: low-cost interventions for high-value achievements

Chesini F.
Internal Medicine Unit and MetabERN Health Care Provider, University Hospital of Verona, Verona, Italy Close
ORCID , Battaglia Y.
Department of Medicine, University of Verona, Verona, Italy Close
ORCID , Turri G.
Neurology Unit, University Hospital of Verona, Verona, Italy Close
ORCID , Baciga F.
Department of Medicine, University of Verona, Verona, Italy Close
, Caccia F.
Department of Medicine, University of Verona, Verona, Italy Close
, Momente C.
Department of Medicine, University of Verona, Verona, Italy Close
, 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 2024; 1 (1): e460
DOI: 10.61012_20242_460

Rhabdomyolysis in clinical practice

Loprieno S.
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy Close
, Vadi G.
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy Close
, Torri F.
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy Close
, Alì G.
Department of Surgical, Medical, Molecular Pathology and Critical Area, Anatomic Pathology Section, University of Pisa, Pisa, Italy Close
, Lencioni M.
Hand Surgery Unit, Azienda Ospedaliera Universitaria Pisana, Santa Chiara Hospital, Pisa, Italy Close
, Siciliano G.
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy Close
, Ricci G.
Department of Clinical and Experimental Medicine, Neurology Unit, University of Pisa, Pisa, Italy
giulia.ricci@unipi.it Close

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