Found: 365
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Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03424-2
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- Publication type:
- Article
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03411-7
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- Publication type:
- Article
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03388-3
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- Article
Clinical characteristics and treatment outcomes of women with recurrent uterine leiomyosarcoma.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03415-3
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- Publication type:
- Article
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
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- Publication type:
- Article
Psychological conditions of caregivers of adult subjects with Prader-Willi syndrome.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03385-6
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- Publication type:
- Article
Uncertainties in evaluating the health-related quality of life and disease burden of people with rare diseases and their caregivers in NICE HST submissions.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03382-9
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- Publication type:
- Article
Establishment of a value assessment framework for orphan medicinal products in China.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03393-6
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- Publication type:
- Article
Quality of life and unmet needs in patients with fabry disease: a qualitative study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03412-6
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- Publication type:
- Article
Addressing cancer survivors' information needs and satisfaction: a systematic review of potential intervention components for survivors with a rare cancer type.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03403-7
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- Publication type:
- Article
Toll-like receptors ligand immunomodulators for the treatment congenital diaphragmatic hernia.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03384-7
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- Publication type:
- Article
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03275-x
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- Publication type:
- Article
Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03390-9
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- Publication type:
- Article
Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03350-3
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- Publication type:
- Article
Evaluation of global and regional myocardial work by echocardiography in patients with Fabry disease.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03396-3
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- Publication type:
- Article
A series of cases of transthyretin amyloid cardiomyopathy with negative bone scintigraphy but a confirmed positive endomyocardial biopsy.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03401-9
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- Publication type:
- Article
Identification of circRNA CDR1as/miR-214-3p regulatory axis in Legg-Calvé-Perthes disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03394-5
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- Publication type:
- Article
Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03405-5
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- Publication type:
- Article
Incidence and predictors of in-stent restenosis following intervention for pulmonary vein stenosis due to fibrosing mediastinitis.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03391-8
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- Publication type:
- Article
A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03406-4
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- Publication type:
- Article
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03365-w
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- Publication type:
- Article
Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03349-w
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- Publication type:
- Article
Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex.
- Published in:
- 2024
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- Publication type:
- Letter
Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03380-x
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- Publication type:
- Article
Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH).
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03336-1
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- Publication type:
- Article
Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03404-6
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- Publication type:
- Article
Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03374-9
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- Publication type:
- Article
Integrating deep phenotyping with genetic analysis: a comprehensive workflow for diagnosis and management of rare bone diseases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03367-8
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- Publication type:
- Article
A novel variant in the 3′ UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03383-8
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- Publication type:
- Article
Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
- Published in:
- 2024
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- Publication type:
- Correction Notice
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03379-4
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- Publication type:
- Article
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03371-y
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- Publication type:
- Article
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03284-w
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- Publication type:
- Article
Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03376-7
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- Publication type:
- Article
Exploring transparent reporting and data availability in systematic reviews to identify subgroup evidence: imaging for suspected hepatocellular carcinoma in the non-cirrhotic liver.
- Published in:
- 2024
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- Publication type:
- Letter
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03378-5
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- Publication type:
- Article
Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03363-y
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- Publication type:
- Article
Prevalence and gender - specific analysis of a systemic sclerosis cohort in Latvia.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03355-y
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- Publication type:
- Article
Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03372-x
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- Publication type:
- Article
Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03368-7
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- Publication type:
- Article
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03361-0
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- Publication type:
- Article
COVID-19 risk factors and outcomes in individuals with stiff person syndrome spectrum disorders before and after omicron.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03357-w
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- Publication type:
- Article
Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03311-w
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- Publication type:
- Article
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03264-0
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- Publication type:
- Article
Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03320-9
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- Publication type:
- Article
Sensory dysfunction in SMA type 2 and 3 - adaptive mechanism or concomitant target of damage?
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03339-y
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- Publication type:
- Article
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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- Publication type:
- Article
Leber hereditary optic neuropathy in Slovenia: quality of life and costs from patient perspective.
- Published in:
- 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
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
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
- By:
- Publication type:
- Correction Notice