Articles
Page 78 of 82
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Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O32
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Cross-border health care represents a key issue in the field of rare diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O31 -
The present situation of Rare Diseases in Central/Eastern Europe? The role of patient organisations
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O30 -
Cross-border healthcare? The Polish experience
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O29 -
The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O28 -
Issues of management of Epidermolysis bullosa in Georgia
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P28 -
The Swedish rare disease information database and the Swedish information centre for rare diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O27 -
APTIC: a social network to improve the quality of life of members of patients' associations
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P27 -
Medical education: the role of patients
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O26 -
Evaluation of population newborn screening practices for rare disorders in member states of the European Union
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P26 -
Contribution of rare disease patient organisations to medical education
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O25 -
EMP's first steps in the field of clinical trials
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O24 -
The patients’ organisations of children with primary immunodeficiency in Poland
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P24 -
Ageing in rare, chronic diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O23 -
Scope and management of Patient Registries for orphan rare disease (ORD) meeting the demands of all involved stakeholders
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O22 -
International registry: genetic and phenotypic characteristics of a heterogenous group of disorders
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P22 -
Comparative demographics of the European Cystic Fibrosis population: does EU membership confer an advantage?
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O20 -
DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P20 -
Cross-border genetic testing
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O19 -
Predictors of orphan drug approval
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O18 -
Evidence-based information guides to rare chromosome disorders for families and professionals
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P18 -
Determinants for research on rare diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O16 -
European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P16 -
DYSCERNE: a European Network of Centres of Expertise for Dysmorphology
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O14 -
Social profiles - a dialogue tool
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P14 -
E-learning for carers
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P13 -
The Epidermolysis bullosa house in Salzburg
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O12 -
Registry of Outcome Measures (ROM); tools supporting review and selection of outcome measures (OMs) for studies and trials
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P12 -
Orphandev, French Clinical Trials Network dedicated to Orphan drugs and therapeutics development for rare diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P11 -
A "Family Project" to fight Usher, a rare disease leading to deaf-blindness
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O10 -
Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P10 -
Living with Progeria
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O9 -
Cell therapies for Duchenne muscular dystrophy: some ethical issues for personalised medicines
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P8 -
The impact of a small parental network: how 11q improved research, knowledge, contacts and support
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O8 -
How a motivation programme can affect complex treatment compliance in a rare disease? Results of a questionnaire-based, self-reported study to evaluate “Life Club CF”, a programme intended for patients with cystic fibrosis
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P7 -
French experience with rare diseases plans
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O7 -
Cystic Fibrosis in Europe - remote measurement of outcome
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P6 -
Building centres of expertise according to the Dutch model?
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O6 -
Rare diseases research in Europe: an overview based on data from the Orphanet database
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P5 -
Individual plans and coordinated services: an empowering process
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O5 -
Genetic testing in Europe: transborder testing is a necessity
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P4 -
The added value of centres of expertise for rare disease patients in Europe
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O4 -
EURORDIS Summer School for patient advocates in clinical trials and drug development
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P3 -
Recommendations for the development of national plans for rare diseases
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O3 -
European Project for Rare Diseases National Plans Development (EUROPLAN)
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P2 -
State of the art of services in Europe: where are the problems?
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O2 -
WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):P1 -
The German plan for rare diseases: a development in progress
Citation: Orphanet Journal of Rare Diseases 2010 5(Suppl 1):O1 -
Dent's disease
Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and pro...
Citation: Orphanet Journal of Rare Diseases 2010 5:28 -
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendo...
Citation: Orphanet Journal of Rare Diseases 2010 5:27
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- ISSN: 1750-1172 (electronic)