All Stories

  1. Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain
  2. Temporal and Cartographic Analyses of the Distribution within Spain of Mortality Due to Granulomatosis with Polyangiitis (1984–2016)
  3. Schooling of Children with Rare Diseases and Disability in Europe
  4. Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations
  5. Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain
  6. SpainUDP: The Spanish Undiagnosed Rare Diseases Program
  7. A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies
  8. Recommendations for Improving the Quality of Rare Disease Registries
  9. SpainUDP: The Spanish Undiagnosed Rare Diseases Program
  10. Measurement Issues: Building a theoretical framework for autism spectrum disorders screening instruments in Europe
  11. Early Detection and Intervention of ASD: A European Overview
  12. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
  13. Congenital Anomalies: Cluster Detection and Investigation
  14. Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
  15. Data Quality in Rare Diseases Registries
  16. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
  17. Mortality Statistics and their Contribution to Improving the Knowledge of Rare Diseases Epidemiology: The Example of Hereditary Ataxia in Europe
  18. Preparing for the Future of Rare Diseases
  19. Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER
  20. Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
  21. Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland
  22. Characterization of immune cell phenotypes in adults with autism spectrum disorders
  23. The risk of re-identification versus the need to identify individuals in rare disease research
  24. Bortezomib for the treatment of acute lymphoblastic leukemia
  25. Patient participation in the development of a clinical guideline for inherited retinal dystrophies
  26. Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe
  27. Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe
  28. Social/economic costs and health-related quality of life in patients with cystic fibrosis in Europe
  29. Social/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe
  30. Social/economic costs and health-related quality of life in patients with fragile X syndrome in Europe
  31. Social/economic costs and health-related quality of life in patients with histiocytosis in Europe
  32. Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe
  33. Social/economic costs and health-related quality of life in patients with scleroderma in Europe
  34. Social/economic costs and health-related quality of life of mucopolysaccharidosis patients and their caregivers in Europe
  35. Social/economic costs and quality of life in patients with haemophilia in Europe
  36. Modified checklist for autism in toddlers cross-cultural adaptation for Argentina
  37. Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
  38. Monitoring Huntington's Disease Mortality across a 30-Year Period: Geographic and Temporal Patterns
  39. Impact of rare diseases in oral health
  40. The Quality of Rare Disease Registries: Evaluation and Characterization
  41. Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France
  42. Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study
  43. Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries
  44. A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities
  45. Recruitment procedures for descriptive socio-economic studies in rare diseases. The BURQOL-RD project
  46. La detección e intervención tempranas en menores con trastorno del espectro autista
  47. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
  48. Current trends in biobanking for rare diseases: a review [Corrigendum]
  49. Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry
  50. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
  51. The economic burden and health-related quality of life associated with systemic sclerosis in France
  52. Current trends in biobanking for rare diseases: a review
  53. The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration
  54. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
  55. National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences
  56. Registros de enfermedades respiratorias integrados en el Registro Nacional de Enfermedades Raras
  57. Respiratory Diseases Registries in the National Registry of Rare Diseases
  58. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
  59. Screening for autism spectrum disorders: state of the art in Europe
  60. Programa de detección precoz de trastornos generalizados del desarrollo en las áreas de salud de Salamanca y Zamora
  61. Social Economic Costs and Health-Related Quality of Life in Patients With Systemic Sclerosis in Spain
  62. Association of Immunological Cell Profiles with Specific Clinical Phenotypes of Scleroderma Disease
  63. National Rare Disease Registries: overview from Spain
  64. National rare diseases registry in Spain: pilot study of the Spanish Rare Diseases Registries Research Network (SpainRDR)
  65. RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
  66. Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010
  67. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
  68. Comparative cost-effectiveness analysis of oral triptan therapy for migraine in four European countries
  69. ¿Hay lugar en atención primaria para las enfermedades poco frecuentes? El caso de la fibrodisplasia osificante progresiva
  70. Mortality of congenital osteochondrodysplasias: A nationwide registry‐based study
  71. Análisis de costes y carga de enfermedad
  72. EUROPLAN: A Project to Support the Development of National Plans on Rare Diseases in Europe
  73. Epidemiology of Hereditary Ataxias in Spain: Hospital Discharge Registry and Population-Based Mortality Study
  74. The Current Situation and Needs of Rare Disease Registries in Europe
  75. Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study
  76. Further evidence supporting a genetic background for Paget's disease of bone in Spain
  77. Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects
  78. The need for worldwide policy and action plans for rare diseases
  79. Cost-effectiveness analysis of burning mouth syndrome therapy
  80. Proteomics of toxic oil syndrome in humans: Phenotype distribution in a population of patients
  81. Clasificación de las enfermedades constitucionales del hueso: lo que va de ayer a hoy
  82. Increase in motor neuron disease mortality in Spain: Temporal and geographical analysis (1990–2005)
  83. Classification of constitutional disorders of bone: a new perspective
  84. Modified Checklist for Autism in Toddlers: Cross-Cultural Adaptation and Validation in Spain
  85. Concepto, epidemiología, situación actual y perspectivas futuras
  86. Rare Diseases Epidemiology Research
  87. Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data
  88. Rare Diseases Epidemiology
  89. Patient involvement in health research: A contribution to a systematic review on the effectiveness of treatments for degenerative ataxias
  90. Prevalence of scleroderma in Spain: an approach for estimating rare disease prevalence using a disease model
  91. Enfermedades raras: datos impropios para un problema grave
  92. Cystic fibrosis mortality trends in Spain among infants and young children: 1981–2004
  93. High prevalence of cardiovascular risk in patients with toxic oil syndrome: A comparative study using the general Spanish population
  94. Estimating the Burden of Disease for Autism Spectrum Disorders in Spain in 2003
  95. Enfermedades raras
  96. Evolución secular y por comunidades autónomas de la frecuencia de síndrome de Down al nacimiento en hijos de madres jóvenes
  97. Child health and the environment: the INMA Spanish Study
  98. Estrés relacionado con el trabajo y exposición laboral en enfermeras de la Comunidad de Castilla y León
  99. Respuesta de los autores
  100. Genetic approaches in the understanding of Toxic Oil Syndrome
  101. Toxic oil syndrome: Genetic restriction and immunomodulatory effects due to adulterated oils in a model of HLA transgenic mice
  102. Análisis de la producción científica española sobre enfermedades raras: 1990-2000
  103. Quality of life, disability and handicap in patients with toxic oil syndrome
  104. Determination of protein markers in human serum: Analysis of protein expression in toxic oil syndrome studies
  105. Rendimiento diagnóstico de la indicación de ecocardiografía en el seguimiento de los pacientes con «síndrome del aceite tóxico»
  106. Prevalencia de factores de riesgo cardiovascular en una cohorte de afectados por el síndrome del aceite tóxico
  107. Toxic oil syndrome: Survival in the whole cohort between 1981 and 1995
  108. Characteristics of disability and handicap among toxic oil syndrome (TOS) cohort patients: a cross-sectional study, 17 years after the original food intoxication
  109. Carpal tunnel syndrome. A new feature in the natural history of TOS?
  110. Immunoglobulin and autoantibody responses in MRL/lpr mice treated with ‘toxic oils’
  111. On-Line HPLC-UV-mass spectrometry and tandem mass spectrometry for the rapid delineation and characterization of differences in complex mixtures: a case study using toxic oil variants
  112. ¿Cómo enfrentarse a una crisis en Salud Pública?
  113. Síndrome del aceite tóxico y paracetamol
  114. Automated Strong Cation Exchange Extraction of Fatty Acid Esters of 3-(N-Phenylamino)-1,2-propanediol from Oil Samples for Routine Quantification by HPLC-APCI/MS/MS
  115. Pathology of “Toxic Oils” and Selected Metals in the MRL/lpr Mouse
  116. Determination of Aniline Derivatives in Oils Related to the Toxic Oil Syndrome by Atmospheric Pressure Ionization-Tandem Mass Spectrometry
  117. Storage time and deodorization temperature influence the formation of aniline-derived compounds in denatured rapeseed oils
  118. Bioterrorismo y salud pública
  119. DR2 antigens are associated with severity of disease in toxic oil syndrome (TOS)
  120. Late Deaths among Young Women Affected by the Toxic Oil Syndrome in Spain
  121. Umbilical cord blood banking for unrelated transplantation
  122. Pentachlorophenol and Pentachloroanisole in Oil Samples Associated with the Toxic Oil Syndrome
  123. Toxic oil syndrome mortality: the first 13 years
  124. Health Status Measurement in Toxic Oil Syndrome
  125. Rapid HPLC screening method for contaminants found in implicatedL-tryptophan associated with eosinophilia myalgia syndrome and adulterated rapeseed oil associated with toxic oil syndrome
  126. Cytokine mRNA expression in lung tissue from toxic oil syndrome patients: a TH2 immunological mechanism
  127. Toxicologists versus Toxicological Disasters: Toxic Oil Syndrome, Clinical Aspects
  128. Toxicologists versus toxicological disasters: Toxic oil syndrome (TOS). Analytical chemistry/analytical toxicology
  129. Toxic oil syndrome: Traceback of the toxic, oil and evidence for a point source epidemic
  130. Products of Aniline and Triglycerides in Oil Samples Associated with the Toxic Oil Syndrome
  131. Immunological basis of toxic oil syndrome (TOS)
  132. Toxic oil syndrome and eosinophilia-myalgia syndrome: May 8–10, 1991, World Health Organization Meeting report
  133. Mortality among People Affected by Toxic Oil Syndrome
  134. Cardiac abnormalities in the toxic oil syndrome, with comparative observations on the eosinophilia-myalgia syndrome
  135. Toxic oil syndrome: A current clinical and epidemiologic summary, including comparisons with the eosinophilia-myalgia syndrome
  136. Histologic abnormalities of large and small coronary arteries, neural structures, and the conduction system of the heart found in postmortem studies of individuals dying from the toxic oil syndrome
  137. Manufacturing processes at two French rapeseed oil companies: Possible relationships to toxic oil syndrome in Spain
  138. Late cases of toxic oil syndrome: Evidence that the aetiological agent persisted in oil stored for up to one year
  139. Synthesis of N-(5-vinyl-1,3-thiazolidin-2-ylidene)phenylamine and analysis of oils implicated in the spanish toxic oil syndrome for its presence
  140. Toxic-oil syndrome: Case reports associated with the ITH oil refinery in Sevilla
  141. Esophagus and toxic oil syndrome
  142. SPANISH TOXIC OIL AND CONGENITAL MALFORMATIONS