ORPHANET JOURNAL OF RARE DISEASES

Journal

Identifier:

E191009

ISSN:

1750-1172

Overview

Outputs (36)

(TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

Abstract

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Academic Article

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study

Academic Article

Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

Academic Article

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Academic Article

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Academic Article

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Academic Article

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI.

Academic Article

Digital health and clinical patient management system (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

Academic Article

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Academic Article

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Academic Article

Genotype-phenotype correlation in Pompe disease, a step forward

Academic Article

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Academic Article

Global epidemiology of Duchenne muscular dystrophy: An updated systematic review and meta-analysis

Academic Article

Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study

Academic Article

Is 99mTc-diphosphonate uptake the earliest sign of cardiac amyloidosis development in asymptomatic Glu89Gln transthyretin gene mutation carriers?

Abstract

Joubert Syndrome and related disorders

Academic Article

Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation

Academic Article

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Academic Article

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency

Academic Article

Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE registry

Academic Article

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Academic Article

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

Academic Article

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

Academic Article

Proteus syndrome: Evaluation of the immunological profile

Academic Article

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy

Academic Article

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

Academic Article

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

Academic Article

The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome

Academic Article

The Italian neuromuscular registry: A coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Academic Article

The Italian registry for patients with Prader-Willi syndrome

Academic Article

The empowerment of translational research: lessons from laminopathies

Academic Article

Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey

Academic Article

Usefulness of combining electrocardiogram and echocardiography findings and brain natriuretic peptide in early detection of cardiac amyloidosis in subjects with transthyretin gene mutation

Abstract

No Results Found

ORPHANET JOURNAL OF RARE DISEASES

Overview

Outputs (36)