Journal
type: Class
label: Jornal @pt-br

RDF description of Orphanet Journal of Rare Diseases - https://brcris.ibict.br/individual/journ_b722d978-3f2c-46bc-bac4-0aee55b132c4
type: Document
rights: termsOfUse
date: 2025-12-03T22:55:53
publisher: brcris.ibict.br

Orphanet Journal of Rare Diseases
type: Journal
issnl: 1750-1172
has subject area: CIENCIAS BIOLOGICAS I
type: journal
has subject area: FARMACIA
has subject area: NUTRICAO
has subject area: SAUDE COLETIVA
h index: 131
has subject area: CIENCIAS BIOLOGICAS II
has subject area: ODONTOLOGIA
country code: GB
publisher: BioMed Central
has subject area: BIOTECNOLOGIA
apc amount: 1870
has subject area: MEDICINA III
qualis classification: A2
issn: 1750-1172
is in doaj: True
has subject area: INTERDISCIPLINAR
has subject area: MEDICINA I
openalex identifier: https://openalex.org/S71291065
two year mean cite: 3.7853881278538815
apc currency: GBP
i10 index: 1689
is oa: True
has subject area: MEDICINA II

Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies
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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
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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
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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
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10.1186/s13023-021-01834-0.
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CIENCIAS BIOLOGICAS I
type: Concept
type: Thing

Estimated costs for Duchenne muscular dystrophy care in Brazil
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mucopolysaccharidosis VII in Brazil: natural history and clinical findings
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
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Psychometric study of the SF-36v2 in hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE)
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FARMACIA
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Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers
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NUTRICAO
type: Concept
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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients
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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
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SAUDE COLETIVA
type: Concept
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Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
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Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia
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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
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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
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CIENCIAS BIOLOGICAS II
type: Concept
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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
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ODONTOLOGIA
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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
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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
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Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
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Sanflippo syndrome: consensus guidelines for clinical care
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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
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BIOTECNOLOGIA
type: Concept
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Mowat-Wilson syndrome: growth charts
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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
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Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?
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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)
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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
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Functional results after carpal tunnel release in mucopolysaccharidosis
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MEDICINA III
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A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
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Impact of a digital manual for guidance on malignant hyperthermia: patient education
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INTERDISCIPLINAR
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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
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MEDICINA I
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Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
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Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP
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Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
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An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis
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Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks
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Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
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https://brcris.ibict.br/individual/publ_4f9e8716-1556-4b8b-9c0a-a3341c72db68
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label: 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
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Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies
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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
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Creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis
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Social pharmaceutical innovation and alternative forms of research, development and deployment for drugs for rare diseases
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A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis
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MEDICINA II
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