Why rare diseases are an important medical and social issue.
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Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectivesScoping review of patient- and family-oriented outcomes and measures for chronic pediatric diseaseNeutrophil homeostasis and inflammation: novel paradigms from studying periodontitisInduced Pluripotent Stem Cell Models to Enable In Vitro Models for Screening in the Central Nervous SystemOrphan drugs: expensive yet necessary.The informational needs of patients with ANCA-associated vasculitis-development of an informational needs questionnaireThe collective impact of rare diseases in Western Australia: an estimate using a population-based cohortRare inherited kidney diseases: challenges, opportunities, and perspectives.A vertex similarity-based framework to discover and rank orphan disease-related genes.Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS)--registry Swabia.Access to orphan drugs despite poor quality of clinical evidence.Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.Exploring Sources of Emotional Distress among People Living with Scleroderma: A Focus Group StudyThe supportive care needs of parents with a child with a rare disease: results of an online survey.Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.Innovative measures to combat rare diseases in China: The national rare diseases registry system, larger-scale clinical cohort studies, and studies in combination with precision medicine researchDIGNiFI: Discovering causative genes for orphan diseases using protein-protein interaction networks.Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases.Construction and implications of structural equation modeling network for pediatric cataract: a data mining research of rare diseases.The availability and affordability of orphan drugs for rare diseases in ChinaRole of bacteria in leukocyte adhesion deficiency-associated periodontitis.Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act.Immune and regulatory functions of neutrophils in inflammatory bone loss.The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Sustainable rare diseases business and drug access: no time for misconceptions.Computer-assisted initial diagnosis of rare diseasesAchieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseasesHealth-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.Emergence of pediatric rare diseases: Review of present policies and opportunities for improvementRecommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).Internet Use by Parents of Children With Rare Conditions: Findings From a Study on Parents' Web Information Needs.Review of 11 national policies for rare diseases in the context of key patient needs.3-Dimensional Facial Analysis-Facing Precision Public Health.Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.The role of academic institutions in the development of drugs for rare and neglected diseases.Prioritization of orphan disease-causing genes using topological feature and GO similarity between proteins in interaction networks.Integrating ontologies of rare diseases and radiological diagnosis.The Frequent Unusual Headache Syndromes: A Proposed Classification Based on Lifetime Prevalence.
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P2860
Why rare diseases are an important medical and social issue.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Why rare diseases are an important medical and social issue.
@en
Why rare diseases are an important medical and social issue.
@nl
type
label
Why rare diseases are an important medical and social issue.
@en
Why rare diseases are an important medical and social issue.
@nl
prefLabel
Why rare diseases are an important medical and social issue.
@en
Why rare diseases are an important medical and social issue.
@nl
P2093
P1433
P1476
Why rare diseases are an important medical and social issue.
@en
P2093
Anita Aperia
Arrigo Schieppati
Erica Daina
P304
P356
10.1016/S0140-6736(08)60872-7
P407
P577
2008-06-01T00:00:00Z