Journal
Jornal
RDF description of Orphanet Journal of Rare Diseases - https://brcris.ibict.br/individual/journ_b722d978-3f2c-46bc-bac4-0aee55b132c4
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up
Estimated costs for Duchenne muscular dystrophy care in Brazil
mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)
Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials
A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia
Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study
Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
Sanflippo syndrome: consensus guidelines for clinical care
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Functional results after carpal tunnel release in mucopolysaccharidosis
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
Impact of a digital manual for guidance on malignant hyperthermia: patient education
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
The International Collaborative Gaucher Group GRAF (Gaucher Risk Assessment for Fracture) score: a composite risk score for assessing adult fracture risk in imiglucerase-treated Gaucher disease type 1 patients
Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis
Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases
A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis