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Synthetic datasets for open software development in rare disease research.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03254-2
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- Article
Coronary periarteritis and pericarditis are rare but distinct manifestations of heart involvement in IgG4-related disease: a retrospective cohort study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03266-y
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- Article
A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03278-8
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- Article
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03282-y
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- Article
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03272-0
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- Article
Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03245-3
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- Article
A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03262-2
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- Article
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03274-y
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- Article
Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03258-y
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- Article
Androgen transition and management of hereditary angioedema long-term prophylaxis in real life: a single-center case series.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03251-5
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- Article
Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03271-1
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- Article
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03270-2
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- Article
Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03265-z
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- Article
Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03273-z
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- Article
Connect-ROD – development and qualitative evaluation of a community-based group intervention to support well-being in patients with a rare or orphan disease.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03252-4
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- Article
The characteristics of eating, drinking and oro-pharyngeal swallowing difficulties associated with repaired oesophageal atresia/tracheo-oesophageal fistula: a systematic review and meta-proportional analysis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03259-x
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- Article
Autism spectrum disorder in young patients with congenital central hypoventilation syndrome: role of the autonomic nervous system dysfunction.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03257-z
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- Article
Extent of magnitude representation deficit and relationship with arithmetic skills in children with 22q11.2DS.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03263-1
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- Publication type:
- Article
Screening primary carnitine deficiency in 10 million Chinese newborns: a systematic review and meta-analysis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03267-x
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- Article
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03228-4
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- Article
Validation of the Center for Neurologic Study Bulbar Function Scale–Chinese version in a population with amyotrophic lateral sclerosis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03255-1
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- Article
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03219-5
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- Article
Challenges for gene therapy in the financial sustainability of health systems: a scoping review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03249-z
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- Article
High risk Langerhans cell histiocytosis in children: the role of salvage in improving the outcome. A single center experience.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03232-8
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- Article
An international survey assessing the effects of the duration of attack-free period on health-related quality of life for patients with hereditary angioedema.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03247-1
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- Article
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03157-2
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- Article
Current situation of osteogenesis imperfecta in Spain: results from a Delphi study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03248-0
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- Article
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03238-2
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- Article
The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03224-8
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- Article
Novel developments in the study of estrogen in the pathogenesis and therapeutic intervention of lymphangioleiomyomatosis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03239-1
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- Article
Gastric SMARCA4-deficient undifferentiated tumor (SMARCA4-UT): a clinicopathological analysis of four rare cases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03244-4
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- Article
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03242-6
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- Article
Functional characterization of two DYRK1B variants causative of AOMS3.
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- 2024
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- Publication type:
- Letter
Prognostic factors and nomogram for pulmonary resected high-grade neuroendocrine carcinomas: a 20-year single institutional real-world experience.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03240-8
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- Article
A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03221-x
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- Article
Cognitive potential of children and adolescents with CHARGE syndrome and deafblindness.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03222-w
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- Article
Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03241-7
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- Article
Plasma metabolomics signatures of developmental dysplasia of the hip in Tibet plateau.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03230-w
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- Publication type:
- Article
Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03231-9
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- Article
Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03229-3
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- Article
Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03220-y
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- Article
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03235-5
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- Article
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03218-6
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- Article
Neuroleptic malignant syndrome and serotonin syndrome: a comparative bibliometric analysis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03227-5
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- Publication type:
- Article
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03225-7
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- Article
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03226-6
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- Publication type:
- Article
Multi-omics analysis of a case of congenital microtia reveals aldob and oxidative stress associated with microtia etiology.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03149-2
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- Article
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03216-8
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- Publication type:
- Article
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03213-x
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- Article
Progressive Supranuclear palsy (PSP) disease progression, management, and healthcare resource utilization: a retrospective observational study in the US and Canada.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03168-z
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- Article