Results 11 to 20 of about 7,599,301 (308)

Expert Consensus on Rare Disease Pharmaceutical Care in Hospitals (2025)

Xiehe Yixue Zazhi
In recent years, with strong support from the national government, the diagnosis and treatment of rare diseases in China have achieved significant progress.
Rare Disease Drug Committee of the Chinese Pharmaceutical Association
doaj   +2 more sources

An Easyguide to Rare Diseases in Ireland: For Government, the General Public, Media and Political Parties [PDF]

, 2020
Rare diseases are characterised by their relatively low prevalence (less than 1 in 2,000 people in the EU). To have a rare disease is to have a condition that often goes undiagnosed for years. Doctors may never have seen the condition before and hospital
McKnight, Amy J., Somanadhan, Suja, McAneney, Helen, et al., Rare Disease Taskforce   +4 more
core   +2 more sources

Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research

, 2020
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer ...

core   +2 more sources

Anaemia in Waldmann’s disease: A rare presentation of a rare disease

World Journal of Gastrointestinal Endoscopy, 2015
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin.
Shahira A, El-Etreby, Ahmed Y, Altonbary, Mohamed El, Sorogy, Wagdi, Elkashef, Jehan A, Mazroa, Monir H, Bahgat   +5 more
openaire   +2 more sources

Rare Autoinflammatory Diseases

Turkish Archives of Pediatrics, 2021
Systemic autoinflammatory diseases are disorders caused by dysregulation of the innate immune system leading to systemic inflammation. Since the first gene had been identified causing Familial Mediterranean Fever, the most common hereditary systemic autoinflammatory disease, advances in genomic techniques and awareness of the diseases have led to ...
BAŞARAN, HALİDE ÖZGE, ÖZEN, SEZA, BİLGİNER, YELDA   +2 more
openaire   +3 more sources

An easyguide to rare diseases in Ireland and consensus for action for government, the general public, media and political parties [PDF]

, 2020
The aims of this guide are to: • Explain what a rare disease is and how it is defined in health policy • Provide insights into living with a rare disease • Identify priorities patient advocacy groups would urge the Irish Government to include in the
IPPOSI, Health Research Charities Ireland, /, Rare Disease Ireland   +2 more
core  

Overview of patients’ cohorts in the French National rare disease registry

Orphanet Journal of Rare Diseases, 2023
In France, all patients followed by Rare Disease (RD) expert centers have to be registered in the National Rare Disease Registry (BNDMR). This database collects a minimum data set including diagnosis coded using the Orphanet nomenclature.
Thibaut Pichon, Claude Messiaen, Louis Soussand, Céline Angin, Arnaud Sandrin, Nabila Elarouci, Anne-Sophie Jannot, on behalf of the BNDMR infrastructure team   +7 more
doaj   +1 more source

Biomarkers in Rare Diseases [PDF]

International Journal of Molecular Sciences, 2021
There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...]
openaire   +2 more sources

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
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Developing Methodology for the Creation of Clinical Practice Guidelines for Rare Diseases : A Report from RARE-Bestpractices [PDF]

, 2015
Date of Acceptance: 29/05/2015 The research leading to these results has received funding from the (FP7/2007–2013), under grant agreement n 305690 (RARE-Bestpractices project). The opinions, presented here reflect only the authors’ views.
RARE-Bestpractices Consortium
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