Found: 386
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Experience of life quality from patients with aplastic anemia: a descriptive qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02993-y
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- Publication type:
- Article
Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02985-y
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- Publication type:
- Article
Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02976-z
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- Publication type:
- Article
Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02939-4
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- Article
Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02990-1
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- Publication type:
- Article
Delineating family needs in the transition from hospital to home for children with medical complexity: part 1, a meta-aggregation of qualitative studies.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02942-9
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- Publication type:
- Article
Delineating family needs in the transition from hospital to home for children with medical complexity: part 2, a phenomenological study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02747-w
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- Publication type:
- Article
Derivation and validation of diagnostic models for myocardial fibrosis in duchenne muscular dystrophy: assessed by multi-parameter cardiovascular magnetic resonance.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02931-y
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- Publication type:
- Article
Impact of specialist ataxia centres on health service resource utilisation and costs across Europe: cross-sectional survey.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02971-4
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- Publication type:
- Article
∆<sup>4</sup>-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02984-z
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- Publication type:
- Article
Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02913-0
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- Publication type:
- Article
Association of preoperative retinal microcirculation and perioperative outcomes in patients undergoing congenital cardiac surgery.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02969-y
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- Publication type:
- Article
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02981-2
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- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
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- Publication type:
- Article
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02991-0
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- Publication type:
- Article
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02980-3
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- Publication type:
- Article
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02989-8
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- Publication type:
- Article
Qualified placebo for trials of herbal medicine treatment in rare diseases? A cross-sectional analysis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02987-w
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- Publication type:
- Article
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02982-1
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- Publication type:
- Article
The improvement of motor symptoms in Huntington's disease during cariprazine treatment.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02930-z
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- Publication type:
- Article
Using theory of change to co-create a programme theory for a telerehabilitation intervention for pain management in people with haemophilia.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02988-9
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- Publication type:
- Article
Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02973-2
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- Publication type:
- Article
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02975-0
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- Article
Correction: Meeting abstracts from the 11th edition of the European conference on Rare Diseases & Orphan Products (ECRD) 2022.
- Published in:
- 2023
- Publication type:
- Proceeding
Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02972-3
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- Publication type:
- Article
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02934-9
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- Article
Efficacy and safety of compassionate use for rare diseases: a scoping review from 1991 to 2022.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02978-x
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- Publication type:
- Article
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02977-y
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- Publication type:
- Article
Explorative research on glucolipid metabolism and levels of adipokines in pseudohypoparathyroidism type 1 patients.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02979-w
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- Publication type:
- Article
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02967-0
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- Publication type:
- Article
Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02892-2
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- Publication type:
- Article
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02944-7
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- Publication type:
- Article
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02954-5
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- Publication type:
- Article
Pediatric pulmonary multisystem langerhans cell histiocytosis: does lung lesion severity affect the outcome?
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02970-5
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- Publication type:
- Article
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02940-x
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- Publication type:
- Article
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02897-x
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- Publication type:
- Article
Wolfram syndrome type 1: a case series.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02938-5
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- Publication type:
- Article
Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02871-7
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- Publication type:
- Article
Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02805-3
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- Publication type:
- Article
The bleeding diathesis in patients with hereditary haemorrhagic telangiectasia is not due to impaired platelet function.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02968-z
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- Publication type:
- Article
Effects of COVID-19 infection in patients with autoimmune pulmonary alveolar proteinosis: a single-center study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02950-9
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- Publication type:
- Article
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02962-5
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- Publication type:
- Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02966-1
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- Publication type:
- Article
Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02965-2
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- Publication type:
- Article
Fibro-adipose vascular anomaly (FAVA) - diagnosis, staging and management.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02961-6
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- Publication type:
- Article
A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02959-0
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- Publication type:
- Article
Incidence and survival of transthyretin amyloid cardiomyopathy from a French nationwide study of in- and out-patient databases.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02933-w
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- Publication type:
- Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02946-5
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- Publication type:
- Article
A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02957-2
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- Publication type:
- Article
Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02951-8
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- Publication type:
- Article