Works matching DE "RARE diseases"
Results: 5000
First‐In‐Human Safety, Tolerability, and Pharmacokinetics of PPI‐1011, a Synthetic Plasmalogen Precursor.
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- CTS: Clinical & Translational Science, 2025, v. 18, n. 3, p. 1, doi. 10.1111/cts.70195
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- Article
Fundamental and Clinical Pharmacology of drug repositioning.
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- Fundamental & Clinical Pharmacology, 2025, v. 39, n. 1, p. 1, doi. 10.1111/fcp.13046
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- Article
Rare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
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- Journal of Digestive Diseases, 2024, v. 25, n. 9/10, p. 624, doi. 10.1111/1751-2980.13317
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- Article
Subcutaneous granuloma annulare: a systematic review of a rare and underdiagnosed disease.
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- International Journal of Dermatology, 2025, v. 64, n. 2, p. 246, doi. 10.1111/ijd.17419
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- Article
Capturing Real‐World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?
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- Journal of Evaluation in Clinical Practice, 2025, v. 31, n. 1, p. 1, doi. 10.1111/jep.70010
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- Article
Thyroglossal duct cyst with hoarseness as the sole symptom and an intralaryngeal extension masquerading as a laryngeal mass: Clinical experience and literature review.
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- ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 4, p. NP172, doi. 10.1177/01455613221100030
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- Article
Retrieving Rare Cases: A Protocol for Searching Complex Medical Cases.
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- Medical Reference Services Quarterly, 2024, v. 43, n. 1, p. 15, doi. 10.1080/02763869.2024.2289797
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- Article
Best clinical practice in the treatment of juvenile systemic sclerosis: expert panel guidance - the result of the International Hamburg Consensus Meeting December 2022.
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- Expert Review of Clinical Immunology, 2024, v. 20, n. 4, p. 387, doi. 10.1080/1744666X.2023.2298354
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- Article
Trajectories of depression and anxiety in adults with rare disorders across 13 months during the COVID-19 pandemic.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03633-3
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- Article
Use of Real‐World Data and Real‐World Evidence in Rare Disease Drug Development: A Statistical Perspective.
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- Clinical Pharmacology & Therapeutics, 2025, v. 117, n. 4, p. 946, doi. 10.1002/cpt.3576
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- Article
PMDA Perspective on Use of Real‐World Data and Real‐World Evidence as an External Control: Recent Examples and Considerations.
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- Clinical Pharmacology & Therapeutics, 2025, v. 117, n. 4, p. 910, doi. 10.1002/cpt.3540
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- Article
A case of congenital pili multigemini.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 206, doi. 10.1111/pde.15737
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- Article
An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 170, doi. 10.1111/pde.15750
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- Article
Composite hemangioendothelioma in a 2‐year‐old girl.
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- Pediatric Dermatology, 2025, v. 42, n. 1, p. 201, doi. 10.1111/pde.15725
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- Article
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
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- Clinical Genetics, 2025, v. 107, n. 4, p. 446, doi. 10.1111/cge.14664
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- Article
A Rare Case of Anomalous Pulmonary Venous Return.
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- Echocardiography, 2025, v. 42, n. 1, p. 1, doi. 10.1111/echo.70084
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- Article
A Rare Quadruple Valve Infective Endocarditis Combined With Ventricular Septal Defect.
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- Echocardiography, 2025, v. 42, n. 1, p. 1, doi. 10.1111/echo.70076
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- Article
Cardiac Spindle Cell Sarcoma: A Challenging Presentation and Diagnosis of a Rare Malignant Primary Cardiac Tumor.
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- Echocardiography, 2025, v. 42, n. 1, p. 1, doi. 10.1111/echo.70070
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- Article
Topsy‐Turvy Heart: Exceedingly Rare Congenital Rotational Heart Disease With Large Aorticopulmonary Window and Severe Tracheobroncial Malacia.
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- Echocardiography, 2025, v. 42, n. 1, p. 1, doi. 10.1111/echo.70067
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- Article
A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.
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- Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 1, p. 97, doi. 10.4274/jcrpe.galenos.2023.2022-10-4
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- Article
Benign obstetric and gynaecological diseases associated with pleural effusion: a narrative review.
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- Breathe, 2025, v. 21, n. 1, p. 1, doi. 10.1183/20734735.0238-2024
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- Article
Intralenticular Ozurdex implant: A rare clinical scenario and timely management.
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- Ocular Surgery News, 2024, v. 42, n. 3, p. 19
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- Article
Endoscopic Approach to Laryngeal Schwannoma: A Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 3, p. 1626, doi. 10.1007/s12070-025-05341-7
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- Article
Streptococcus Salivarius: A Case Report of an Uncommon Cause of Neonatal Sepsis.
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- Neonatology Today, 2025, v. 20, n. 2, p. 29
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- Article
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03614-6
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- Article
Myoepithelioma-Like Tumor of the Vulvar Region: A Clinicopathologic Study of Four Cases.
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- International Journal of Surgical Pathology, 2025, v. 33, n. 2, p. 302, doi. 10.1177/10668969241260237
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- Article
Coronary sinus thrombosis: insights from a comprehensive literature review.
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- Thrombosis Journal, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12959-025-00707-x
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- Article
A rare case report of rosemary-induced anaphylaxis.
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- Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 1, p. 71, doi. 10.5114/pja.2024.140317
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- Article
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-57695-9
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- Article
Verbal consent in biomedical research: moving toward a future standard practice?
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1472655
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- Article
Part II: understanding pain in pigs—pain assessment in pigs with spontaneously occurring diseases or injuries.
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- Porcine Health Management, 2025, v. 11, n. 1, p. 1, doi. 10.1186/s40813-025-00420-1
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Correction to: Quality of care for people with differences of sex development (DSD) in Germany.
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- 2025
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- Correction Notice
Mast cell leukemia: a rare case report and literature review.
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- Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1537301
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- Article
Genetics, emotion and care: Navigating future reproductive decisions in families of children with rare genetic conditions.
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- Sociology of Health & Illness, 2025, v. 47, n. 2, p. 1, doi. 10.1111/1467-9566.13854
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- Article
Nutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).
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- Nutrition & Metabolism, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12986-025-00900-9
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- Article
Community Social Networking for Ehlers–Danlos Syndrome.
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- Health Education & Behavior, 2025, v. 52, n. 2, p. 199, doi. 10.1177/10901981241292275
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- Article
Current and Emerging Therapeutic Strategies for the Management of Neurotrophic Keratitis: Neurotrophic Keratitis: J. Lacorzana et al.
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- Drugs, 2025, v. 85, n. 3, p. 283, doi. 10.1007/s40265-025-02147-3
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- 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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- 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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- 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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- Article
Chronic myeloid leukaemia with pulmonary leucostasis in a young Down syndrome patient.
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- Proceedings of Singapore Healthcare, 2020, v. 29, n. 3, p. 203, doi. 10.1177/2010105820929720
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- Article
Frontal sinus mucocele in association with polyostotic fibrous dysplasia: A case report.
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- Proceedings of Singapore Healthcare, 2019, v. 28, n. 3, p. 208, doi. 10.1177/2010105818823787
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- Article
Beliefs, screening attitudes and breast cancer awareness of young women with neurofibromatosis type 1: A reflexive thematic analysis.
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- Journal of Health Psychology, 2025, v. 30, n. 3, p. 369, doi. 10.1177/13591053241255053
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- Article
Minor salivary gland biopsy in the diagnosis of definite ocular sarcoidosis in paediatric granulomatous uveitis.
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- Pediatric Rheumatology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12969-025-01078-3
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- 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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- 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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- 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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- 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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- 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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- Article
Ten years of experience with elbow native joint arthritis: a multicenter retrospective cohort study.
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- Journal of Bone & Joint Infection (JBJI), 2025, v. 10, n. 1, p. 25, doi. 10.5194/jbji-10-25-2025
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- Article