Found: 292
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Experiences of quality of life and access to health services among rare disease caregivers: a scoping review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03327-2
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- Publication type:
- Article
Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03329-0
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- Publication type:
- Article
Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03285-9
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- Article
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03325-4
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- Publication type:
- Article
Turner Syndrome where are we?
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03337-0
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- Publication type:
- Article
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03315-6
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- Publication type:
- Article
Systematic review of phenotypes in McLeod syndrome and case report of a progressive supranuclear palsy in a female carrier.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03309-4
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- Publication type:
- Article
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03217-7
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- Publication type:
- Article
The value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV<sup>+</sup> PTLD)
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03324-5
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- Publication type:
- Article
Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03316-5
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- Publication type:
- Article
Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03318-3
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- Publication type:
- Article
Prenatal chromosomal microarray analysis in a large Chinese cohort of fetuses with congenital heart defects: a single center study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03317-4
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- Publication type:
- Article
Angelman syndrome in Poland: current diagnosis and therapy status—the caregiver perspective: a questionnaire study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03292-w
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- Publication type:
- Article
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03310-x
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- Publication type:
- Article
Navigating global collaboration: challenges faced by the international network on esophageal atresia.
- Published in:
- 2024
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- Publication type:
- Letter
Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03295-7
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- Publication type:
- Article
A case report on Madelung's disease and comprehensive review of the literature.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03303-w
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- Publication type:
- Article
7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03321-8
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- Publication type:
- Article
Long-term safety and influence on growth in patients receiving sirolimus: a pooled analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03243-5
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- Publication type:
- Article
Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03206-w
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- Publication type:
- Article
How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03312-9
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- Publication type:
- Article
Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03319-2
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- Publication type:
- Article
A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03308-5
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- Publication type:
- Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03313-8
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- Publication type:
- Article
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03300-z
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- Publication type:
- Article
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03301-y
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- Publication type:
- Article
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03203-z
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- Publication type:
- Article
A human centred innovative approach based on persona in hereditary angioedema.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03302-x
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- Publication type:
- Article
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03277-9
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- Publication type:
- Article
Acid sphingomyelinase deficiency in France: a retrospective survival study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03234-6
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- Publication type:
- Article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03297-5
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- Publication type:
- Article
Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03289-5
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- Publication type:
- Article
Drug-associated porphyria: a pharmacovigilance study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03294-8
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- Publication type:
- Article
DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03298-4
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- Publication type:
- Article
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03146-5
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- Publication type:
- Article
Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03201-1
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- Publication type:
- Article
Natural history in Malan syndrome: survey of 28 adults and literature review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03288-6
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- Publication type:
- Article
Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03279-7
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- Publication type:
- Article
Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03233-7
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- Publication type:
- Article
Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03291-x
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- Publication type:
- Article
Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03291-x
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- Publication type:
- Article
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03290-y
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- Publication type:
- Article
The Digital Atlas of Ancient Rare Diseases (DAARD) and its relevance for current research.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03280-0
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- Publication type:
- Article
A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03200-2
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- Publication type:
- Article
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03290-y
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- Publication type:
- Article
Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03286-8
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- Publication type:
- Article
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03281-z
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- Publication type:
- Article
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
- Published in:
- 2024
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- Publication type:
- Letter
Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013–2022.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03283-x
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- Publication type:
- Article