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ORPHANET JOURNAL OF RARE DISEASES
Rivista
Codice:
E191009
ISSN:
1750-1172
Dati Generali
Dati Generali
Pubblicazioni (34)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Articolo
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study
Articolo
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients
Articolo
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Articolo
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Articolo
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Articolo
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI.
Articolo
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Articolo
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Articolo
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Articolo
Genotype-phenotype correlation in Pompe disease, a step forward
Articolo
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Articolo
Global epidemiology of Duchenne muscular dystrophy: An updated systematic review and meta-analysis
Articolo
Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study
Articolo
Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?
Abstract
Joubert Syndrome and related disorders
Articolo
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients
Articolo
Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry
Articolo
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
Articolo
Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale
Articolo
Parenteral nutrition improves nutritional status, autonomic symptoms and qol in patients with TTR-FAP
Abstract
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
Articolo
Proteus syndrome: Evaluation of the immunological profile
Articolo
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy
Articolo
Quantitative comparison between amyloid deposition detected by 99mTc-diphosphonate imaging and myocardial deformation evaluated by strain echocardiography in transthyretin related cardiac amyloidosis
Abstract
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
Articolo
Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
Articolo
TTR-FAP: a single-center experience in Sicily, an Italian endemic area
Abstract
The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome
Articolo
The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage
Articolo
The Italian registry for patients with Prader-Willi syndrome
Articolo
The empowerment of translational research: lessons from laminopathies
Articolo
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey
Articolo
Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation
Abstract
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