Orphanet Journal of Rare Diseases
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
18:160.
2023-01-01
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Estimated costs for Duchenne muscular dystrophy care in Brazil.
18:1.
2023-01-01
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Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia.
18:1-11.
2023-01-01
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Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases.
18:259.
2023-01-01
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Joint manifestations revealing inborn metabolic diseases in adults: a narrative review.
18:239.
2023-01-01
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An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.
17:17:67.
2022-01-01
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Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.
17:3-337.
2022-01-01
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Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
17:415.
2022-01-01
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Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.
17:9.
2022-01-01
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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
17:1-1.
2022-01-01
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Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks.
17:1-350.
2022-01-01
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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.
17:1-1.
2022-01-01
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Impact of a digital manual for guidance on malignant hyperthermia: patient education.
17:265.
2022-01-01
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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.
17:1-28.
2022-01-01
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Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
17:437.
2022-01-01
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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
17:300.
2022-01-01
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Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE).
17:88.
2022-01-01
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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
17:..
2022-01-01
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Sanflippo syndrome: consensus guidelines for clinical care.
17:1.
2022-01-01
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Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases.
17:01-13.
2022-01-01
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Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country.
17:1-1.
2022-01-01
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Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
17:238.
2022-01-01
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10.1186/s13023-021-01834-0..
16:204-210.
2021-01-01
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A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
16:8.
2021-01-01
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A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia.
15:,-10.
2021-01-01
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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).
16:456.
2021-01-01
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Functional results after carpal tunnel release in mucopolysaccharidosis.
16:1-7.
2021-01-01
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International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study.
16:482.
2021-01-01
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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.
16:20.
2021-01-01
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
16:365.
2021-01-01
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Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?.
16:360-370.
2021-01-01
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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.
16:212.
2021-01-01
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Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers.
16:1-10.
2021-01-01
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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.
16:92.
2021-01-01
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mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
16:01-247.
2021-01-01
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A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis.
15:179.
2020-01-01
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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.
15:97.
2020-01-01
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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
15:1-12.
2020-01-01
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
15:187.
2020-01-01
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Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis.
15:1-5.
2020-01-01
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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
15:1-10.
2020-01-01
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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
15:1-11.
2020-01-01
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Mowat-Wilson syndrome: growth charts.
15:151-164.
2020-01-01
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
15:11.
2020-01-01
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