Inherited Metabolic Diseases in Adult Age

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 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 (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