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Impact of the COVID-19 pandemic on the quality of care for juvenile idiopathic arthritis patients: insights from Thailand.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03330-7
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- Article
Experiences of quality of life and access to health services among rare disease caregivers: a scoping review.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03327-2
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- 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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- 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.
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- 2024
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- Publication type:
- Correction Notice
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
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03325-4
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- Article
Turner Syndrome where are we?
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03337-0
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- 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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- 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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- Article
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03313-8
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- Article
A human centred innovative approach based on persona in hereditary angioedema.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03302-x
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- Article
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
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- 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 standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.
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- 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
DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.
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- 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
Acid sphingomyelinase deficiency in France: a retrospective survival study.
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- 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
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
Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.
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- 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
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03277-9
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- Article
Drug-associated porphyria: a pharmacovigilance study.
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- 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
Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges.
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- 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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- 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
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
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
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
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- 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
Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.
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- 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.
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- 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.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03200-2
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- 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).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03281-z
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- Article
Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03286-8
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- Article
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
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- 2024
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- Publication type:
- Letter
Diagnostic landscape of first-time cytometric screening for paroxysmal nocturnal hemoglobinuria in Poland in 2013–2022.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03283-x
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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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Synthetic datasets for open software development in rare disease research.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03254-2
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03274-y
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article