rare-diseases

Documents about rare-diseases

• Interactions between Bacillus anthracis and Plants May Promote Anthrax Transmission#675873eScholarship
• An adenoviral-vectored vaccine confers seroprotection against capsular group B meningococcal disease#1052765eScholarship
• Preclinical Models of Rare Corneal and Ocular Surface Diseases: a Comprehensive Narrative Review#324007Springer Nature OA
• www.ramedis.de: Database for long term follow up of patients with rare metabolic diseases#492747Bielefeld Pub
• “Primary Chronic Granulomatous Sialadenitis of the Parotid Gland: A Rare Case Report”#672489Repositorio UNAB
• Table 1_Diagnostic yield of long-read sequencing for rare diseases: a systematic review.xlsx#259809Figshare
• Phase I Study of the Third Generation Adenovirus H5.001CBCFTR in Patients With Cystic Fibrosis#844679ClinicalTrials.gov
• Cytomegalovirus (CMV)-Vectored Vaccines for HIV and Other Pathogens#620067eScholarship
• Randomized Study of Pancrelipase With Bicarbonate (PANCRECARB) Capsules in Reducing Steatorrhea in Patients With Cystic Fibrosis#833264ClinicalTrials.gov
• A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome#908893ClinicalTrials.gov
• Caregiving Networks Across Disease Context and the Life Course#991937ClinicalTrials.gov
• Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)#994026ClinicalTrials.gov
• Organotypic 3D cellular models mimicking the epithelio-ectomesenchymal bi-layer during odontogenesis#124535HAL (France)
• Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy.#335044NCBI PubMed Central
• Japanese intractable and rare dermatologic diseases: From the official skin-centered nanbyo core to an illustrative mechanism-based framework.#625963NCBI PubMed Central
• Phase II Study of Recombinant Relaxin for Progressive Systemic Sclerosis#841006ClinicalTrials.gov
• Genetic Causes of Discrepant Clinic in Monogenic Twins#856929ClinicalTrials.gov
• Study of Energy Requirements in Critically Ill Newborns#883649ClinicalTrials.gov
• Characterization of the Methylation Profile of Stored Human Samples#918637ClinicalTrials.gov
• Impact of heteroresistance on treatment outcomes of people with drug-resistant TB#642084eScholarship
• Knowledge, support, and networking for Phelan-McDermid syndrome: a study protocol#5384Europe PMC
• Exploring patients' and caregivers' experience of therapeutic patient education in rare diseases: A qualitative study#159259HAL (France)
• Rare diseases in children—Knowledge, experiences and challenges faced by pediatricians in Tanzania#180474PLOS
• Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study#236490Ora Oxford University Research
• 21 U.S.C. § 360bbb-8 — Consultation with external experts on rare diseases, targeted therapies, and genetic targeting of treatments#577325US Code (LII)
• Aquatic macrophytes and macroinvertebrate predators affect densities of snail hosts and local production of schistosome cercariae that cause human schistosomiasis#609421eScholarship
• Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome#853203ClinicalTrials.gov
• Analysis of drug binding pockets and repurposing opportunities for twelve essential enzymes of ESKAPE pathogens#491831eScholarship
• Pretreatment chest x-ray severity and its relation to bacterial burden in smear positive pulmonary tuberculosis#634755eScholarship
• European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.#15194NCBI PubMed Central
• Mackenzie's Mission: The Australian Reproductive Carrier Screening Project#882362ClinicalTrials.gov
• Phase I/II Randomized, Placebo-Controlled Study of Capsaicin for Interstitial Cystitis and Vulvar Vestibulitis#967632ClinicalTrials.gov
• Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study#966306ClinicalTrials.gov
• An Open-label Extended Clinical Protocol of Ranibizumab to Evaluate Safety and Efficacy in Rare VEGF Driven Ocular Diseases.#429658ClinicalTrials.gov
• Rare Diseases Clinical Research Network: Neurophysiological Correlates#838180ClinicalTrials.gov
• Genome Medical Sequencing for Gene Discovery#854602ClinicalTrials.gov
• Bone Marrow Transplantation in Treating Children With Sickle Cell Disease#858581ClinicalTrials.gov
• Gene Therapy Communication: Use of a Needs Assessment to Drive Decision-AIDS for Gene Therapy for Rare Diseases (GENETX)#871274ClinicalTrials.gov
• Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia#876711ClinicalTrials.gov
• Ultraviolet Light Therapy for Systemic Lupus Erythematosus#893839ClinicalTrials.gov
• Study of Energy Expenditure in Infants With Ventricular Septal Defects#992695ClinicalTrials.gov
• Evolution of ocular defects in infant macaques following in utero zika virus infection#996284eScholarship
• Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.#3725NCBI PubMed Central
• La hemofilia en España en la segunda mitad del siglo XX: medicina y sociedad#350339Gestión del Repositorio Documental de la Universidad de Salamanca
• Outcome strategies for clinical trials in Neuropaediatric rare diseases#405862HAL (France)
• Phase III Randomized Study of Lucinactant in Full Term Newborn Infants With Meconium Aspiration Syndrome#875831ClinicalTrials.gov
• Phase II Randomized Study of Glucocorticoids With or Without Methotrexate for Treatment of Giant Cell Arteritis#904808ClinicalTrials.gov
• Phase II Pilot Study of Early Cortisol Replacement to Prevent Bronchopulmonary Dysplasia#918230ClinicalTrials.gov
• Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy#993518ClinicalTrials.gov
• Spatial Transcriptomic Landscape of Canine Oral Squamous Cell Carcinoma#996255eScholarship