Works matching DE "RARE diseases"
Results: 5000
Current and Emerging Therapeutic Strategies for the Management of Neurotrophic Keratitis: Neurotrophic Keratitis: J. Lacorzana et al.
- Published in:
- Drugs, 2025, v. 85, n. 3, p. 283, doi. 10.1007/s40265-025-02147-3
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- Publication type:
- Article
Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03435-z
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- Publication type:
- Article
Massive retroperitoneal haemorrhage after retrograde pyelogram in end-stage kidneys: A case report.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 4, p. 256, doi. 10.1177/2010105820947437
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- Publication type:
- Article
Amniotic fluid embolism and management of coagulopathy: A case report with successful outcome.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 3, p. 198, doi. 10.1177/2010105820929723
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- Publication type:
- Article
Chronic myeloid leukaemia with pulmonary leucostasis in a young Down syndrome patient.
- Published in:
- Proceedings of Singapore Healthcare, 2020, v. 29, n. 3, p. 203, doi. 10.1177/2010105820929720
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- Publication type:
- Article
Frontal sinus mucocele in association with polyostotic fibrous dysplasia: A case report.
- Published in:
- Proceedings of Singapore Healthcare, 2019, v. 28, n. 3, p. 208, doi. 10.1177/2010105818823787
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- Publication type:
- Article
Primary Thyroid Tuberculosis Diagnosed with CBNAAT.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1067, doi. 10.1007/s12070-024-05268-5
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- Publication type:
- Article
Lipoid Proteinosis—An Unusual Cause of Hoarseness of Voice in a Child: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1011, doi. 10.1007/s12070-024-05219-0
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- Publication type:
- Article
Pneumoparotitis: A Rare Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1076, doi. 10.1007/s12070-024-05184-8
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- Publication type:
- Article
Recent and anticipated novel drug approvals (4Q 2024 through 3Q 2025).
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- American Journal of Health-System Pharmacy, 2025, v. 82, n. 6, p. 291, doi. 10.1093/ajhp/zxae352
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- Publication type:
- Article
Debates over orphan drug pricing: a meta-narrative literature review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03634-2
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- Publication type:
- Article
Hyperkalaemic acidosis: blood pressure is the diagnostic clue.
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- Pediatric Nephrology, 2025, v. 40, n. 4, p. 967, doi. 10.1007/s00467-024-06590-4
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- Publication type:
- Article
Inflammation clashing onto myocardial susceptibility: a tale of two rare diseases—a case report.
- Published in:
- 2025
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- Publication type:
- Case Study
Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.
- Published in:
- Briefings in Bioinformatics, 2025, v. 26, n. 1, p. 1, doi. 10.1093/bib/bbae667
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- Publication type:
- Article
Medicamentos de alto costo: el difícil equilibrio entre los derechos individuales y los derechos colectivos.
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- Pan American Journal of Public Health, 2024, v. 48, p. 1, doi. 10.26633/RPSP.2024.76
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- Publication type:
- Article
A unique e-health and telemedicine implementation: European Reference Networks for rare diseases.
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- Journal of Public Health: From Theory to Practice (2198-1833), 2020, v. 28, n. 2, p. 223, doi. 10.1007/s10389-019-01052-w
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- Publication type:
- Article
Decreto 7/2024, de 25 de abril, por el que se modifica el Decreto 121/2007, de 20 de diciembre, por el que se regula el ejercicio del derecho a la segunda opinión médica en el Sistema de Salud de Castilla y León [bocyl-d-29042024-1].
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- AIS: Ars Iuris Salmanticensis, 2024, v. 12, n. 2, p. 115
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- Publication type:
- Article
Pediatric Silent Sinus Syndrome: A Case Report and Literature Review.
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- Annals of Otology, Rhinology & Laryngology, 2025, v. 134, n. 4, p. 284, doi. 10.1177/00034894241302143
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- Publication type:
- Article
Muscular Hydatidosis: A Rare Circumstance (Case Report).
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- Journal of Basic Research in Medical Sciences, 2025, v. 12, n. 1, p. 49
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- Publication type:
- Article
Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123 I-mIBG Scintigraphy.
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- Diagnostics (2075-4418), 2025, v. 15, n. 4, p. 508, doi. 10.3390/diagnostics15040508
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- Publication type:
- Article
Integrating Machine Learning-Based Approaches into the Design of ASO Therapies.
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- Genes, 2025, v. 16, n. 2, p. 185, doi. 10.3390/genes16020185
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- Publication type:
- Article
Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.
- Published in:
- 2025
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- Publication type:
- Letter to the Editor
Metodología JUNTS de creación de webapps para el abordaje de barreras en la comunicación médico-paciente: el caso de la aplicación COMJuntos en el ámbito de las enfermedades raras.
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- Teknokultura: Revista de Cultura Digital y Movimientos Sociales, 2021, v. 18, n. 2, p. 157, doi. 10.5209/TEKN.73595
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- Publication type:
- Article
Rare disease challenges and potential actions in the Middle East.
- Published in:
- International Journal for Equity in Health, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12939-025-02388-4
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- Publication type:
- Article
A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-90450-0
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- Publication type:
- Article
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03581-y
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- Publication type:
- Article
Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03595-6
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- Publication type:
- Article
Austausch zu seltenen Erkrankungen.
- Published in:
- 2012
- Publication type:
- Web Site Review
Sarcomatoid squamous cell carcinoma with overlying Bowen's disease in a patient presenting with chronic toe ulceration in diabetes.
- Published in:
- Diabetic Foot Journal, 2022, v. 25, n. 3, p. 18
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- Publication type:
- Article
HODGKIN LYMPHOMA OF STERNUM: A RARE OCCURRENCE.
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- Malaysian Journal of Medical Sciences, 2006, v. 13, p. 120
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- Publication type:
- Article
Kyste osseux anévrysmal de l'os naviculaire chez l'adulte : à propos d'un cas et revue de la littérature.
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- Foot Medicine & Surgery / Medecine et Chirurgie du Pied, 2024, v. 39, n. 1, p. 21, doi. 10.1684/mcp.2024.0101
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- Publication type:
- Article
An Unusual Case of Early Dental Implant Failure in an Otherwise-Healthy Patient due to Actinomycosis.
- Published in:
- Journal of Oral Implantology, 2022, v. 48, n. 3, p. 226, doi. 10.1563/aaid-joi-D-20-00301
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- Publication type:
- Article
Spesolimab in generalised pustular psoriasis flares: a profile of its use.
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- Drugs & Therapy Perspectives, 2023, v. 39, n. 12, p. 404, doi. 10.1007/s40267-023-01034-9
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- Publication type:
- Article
Manage idiopathic hypersomnia with a combination of non-pharmacological and pharmacological treatments.
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- Drugs & Therapy Perspectives, 2023, v. 39, n. 11, p. 378, doi. 10.1007/s40267-023-01028-7
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- Publication type:
- Article
Mitotane in adrenocortical carcinoma: a profile of its use.
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- Drugs & Therapy Perspectives, 2022, v. 38, n. 12, p. 508, doi. 10.1007/s40267-022-00958-y
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- Publication type:
- Article
Enfermedad de Caffey. Reporte de un caso.
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- Acta Ortopédica Mexicana, 2013, v. 27, n. 2, p. 114
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- Publication type:
- Article
Progress in the Management of Pregnancy with Paroxysmal Nocturnal Hemoglobinuria: A Review.
- Published in:
- Journal of Women's Health (15409996), 2024, v. 33, n. 1, p. 98, doi. 10.1089/jwh.2023.0164
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- Publication type:
- Article
HHS awards $2.4 million for rare disease research.
- Published in:
- Public Health Reports, 1990, v. 105, n. 2, p. 212
- Publication type:
- Article
Thyroglossal Duct Cyst: Abbreviated Review and Case Report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Renal cell carcinoma arising from a horseshoe kidney in a chronic hemodialysis patient.
- Published in:
- Clinical & Experimental Nephrology, 2012, v. 16, n. 4, p. 647, doi. 10.1007/s10157-012-0661-z
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- Publication type:
- Article
Internet-based enrollment of a myositis patient cohort—a national experience.
- Published in:
- Clinical Rheumatology, 2024, v. 43, n. 10, p. 3157, doi. 10.1007/s10067-024-07091-3
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- Publication type:
- Article
Myositis as a prominent manifestation of primary skeletal muscle peripheral T-cell lymphoma: a case report and literature review.
- Published in:
- Clinical Rheumatology, 2024, v. 43, n. 7, p. 2343, doi. 10.1007/s10067-024-07003-5
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- Publication type:
- Article
Burden of illness associated with eosinophilic granulomatosis with polyangiitis: a systematic literature review and meta-analysis.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 12, p. 4829, doi. 10.1007/s10067-021-05783-8
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- Publication type:
- Article
The relationship between JAK2(V617F) mutation and dermatomyositis—a case report and literature review.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 3, p. 1147, doi. 10.1007/s10067-020-05286-y
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- Publication type:
- Article
Diagnosing relapsing polychondritis remains a common challenge: experience from a Chinese retrospective cohort.
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- Clinical Rheumatology, 2020, v. 39, n. 7, p. 2179, doi. 10.1007/s10067-019-04852-3
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- Publication type:
- Article
Efficacy of rituximab in resistant palindromic rheumatism: first report in literature.
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- Clinical Rheumatology, 2019, v. 38, n. 9, p. 2399, doi. 10.1007/s10067-019-04578-2
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- Publication type:
- Article
Acute prolonged motor aura resembling ischemic stroke after COVID − 19 vaccination (CoronaVac): the first case report.
- Published in:
- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01311-w
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- Publication type:
- Article
Episodic headache with spontaneous hypothermia reveal Shapiro's syndrome variant with effectiveness of clonidine therapy.
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- Journal of Headache & Pain, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s10194-021-01245-3
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- Publication type:
- Article
Mycobacterium kansasii Pericarditis as a Presentation of AIDS.
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- Infection, 2001, v. 29, n. 1, p. 48, doi. 10.1007/s15010-001-0061-x
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- Publication type:
- Article
Survival in Mudejar Spain in the Middle Ages (thirteenth–fourteenth centuries): Ancient Rare Diseases—an uncommon diagnosis in archaeological human remains.
- Published in:
- International Orthopaedics, 2023, v. 47, n. 11, p. 2869, doi. 10.1007/s00264-023-05863-1
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- Publication type:
- Article