Integrating Genetic Services in the Philippine Public Health Delivery System: The Value of NetworksArticle Published on 2024-06-132024-09-05 Journal: Genes [Category] update2024, [키워드] birth defects Genetic counseling genetics newborn screening rare diseases telegenetics [DOI] 10.3390/genes15060780 PMC 바로가기 [Article Type] Article
Understanding Rare Anemias: Emerging Frontiers for Diagnosis and TreatmentReview Published on 2024-05-292024-09-05 Journal: Journal of Clinical Medicine [Category] update2024, [키워드] Anemia Diagnosis erythrocytes rare diseases Treatment [DOI] 10.3390/jcm13113180 PMC 바로가기 [Article Type] Review
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathiesResearch Published on 2024-05-242024-09-05 Journal: BMC Medical Informatics and Decision Making [Category] update2024, [키워드] artificial intelligence Ciliopathy Clinical decision support early diagnosis Electronic health record External evaluation human phenotype ontology Patient similarity rare diseases [DOI] 10.1186/s12911-024-02538-8 PMC 바로가기 [Article Type] Research
From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family FunctioningArticle Published on 2024-04-292024-09-05 Journal: Journal of Clinical Medicine [Category] update2024, [키워드] disability Pitt–Hopkins syndrome Quality of life rare diseases [DOI] 10.3390/jcm13092605 PMC 바로가기 [Article Type] Article
Efficacy of canakinumab in patients with Still’s disease across different lines of biologic therapy: real-life data from the International AIDA Network Registry for Still’s DiseaseMedicine Original Research Published on 2023-12-122024-09-04 Journal: Frontiers in Medicine [Category] 대상포진, [키워드] AOSD Autoinflammatory diseases Personalized medicine rare diseases Treatment [DOI] 10.3389/fmed.2023.1256243 PMC 바로가기 [Article Type] Medicine Original Research
Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter studyarticle Published on 2023-05-042024-09-05 Journal: Internal and Emergency Medicine [Category] update2024, [키워드] Arteriovenous malformation COVID-19 Hereditary hemorrhagic telangiectasia rare diseases SARS-COV-2 infection [DOI] 10.1007/s11739-023-03287-8 PMC 바로가기 [Article Type] article
Spotlight on Genetic Kidney Diseases: A Call for Drug Delivery and Nanomedicine Solutionsarticle Published on 2023-03-292024-09-05 Journal: ACS Nano [Category] update2024, [키워드] Cell therapy congenital disease drug delivery genetic kidney disease nanomedicine rare diseases [DOI] 10.1021/acsnano.2c12140 PMC 바로가기 [Article Type] article
Impact of the COVID-19 pandemic on the care of rare and undiagnosed diseases patients in France: a longitudinal population-based studyArticle Published on 2022-12-092023-07-11 Journal: Orphanet Journal of Rare Diseases [Category] COVID19(2023년), [키워드] COVID-19 Health policy National health program National health registry rare diseases telehealth [DOI] 10.1186/s13023-022-02580-7 PMC 바로가기
Immunogenicity and safety of BNT162b2 mRNA COVID-19 vaccine in a subject affected by Shapiro’s syndrome: A case reportCase Reports Published on 2022-11-302023-07-09 Journal: Human vaccines & immunotherapeutics [Category] COVID19(2023년), [키워드] aefis Case report rare diseases Spontaneous periodic hypothermia temperature fluctuation. [DOI] 10.1080/21645515.2022.2094148 PMC 바로가기 [Article Type] Case Reports
Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare DiseasesArticle Published on 2022-11-012022-11-16 Journal: Therapeutic innovation & regulatory science [Category] 신약개발, [키워드] advance affected approach children clinical trials COVID-19 COVID-19 pandemic development disease drug ecosystem Efficacy effort engage equity facilitate Follow-up include initiative key factor lack outcome measure Patient pediatric pediatric drug development promote Public public health rare disease rare diseases Regulatory Regulatory policy. Study design Therapies Trial trials [DOI] 10.1007/s43441-022-00409-w PMC 바로가기