Results 41 to 50 of about 11,580,920 (364)
Orphanet Journal of Rare Diseases, 2022 Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen +2 more
doaj +1 more source
seqr: A web‐based analysis and collaboration tool for rare disease genomics
medRxiv, 2021 Exome and genome sequencing have become the tools of choice for rare disease diagnosis, leading to large amounts of data available for analyses. To identify causal variants in these datasets, powerful filtering and decision support tools that can be ...
L. Pais +24 more
semanticscholar +1 more source
A rare presentation of a rare disease [PDF]
Journal of Clinical Pathology, 2003 A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
H Shaikh, Y Steppeler
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Splicing in the Diagnosis of Rare Disease: Advances and Challenges
Frontiers in Genetics, 2021 Mutations which affect splicing are significant contributors to rare disease, but are frequently overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic splicing variants will increase diagnostic yields, ending the diagnostic ...
J. Lord, D. Baralle
semanticscholar +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan Drug Act in the United States. We
K. L. Miller +2 more
semanticscholar +1 more source
Increased serum IL-2, IL-4, IL-5 and IL-12p70 levels in AChR subtype generalized myasthenia gravis
BMC Immunology, 2022 Background Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular junctions. Cytokines play important roles in facilitating the immune response and augmenting the pathogenic antibody production.
Xiao Huan +12 more
doaj +1 more source
Collecting rare diseases [PDF]
F1000Research, 2014 This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
openaire +3 more sources
Network analysis reveals rare disease signatures across multiple levels of biological organization
Nature Communications, 2021 Rare genetic diseases are typically caused by a single gene defect. Despite this clear causal relationship between genotype and phenotype, identifying the pathobiological mechanisms at various levels of biological organization remains a practical and ...
Pisanu Buphamalai +3 more
semanticscholar +1 more source
Kidney Medicine, 2023 Rationale and Objective: Ravulizumab and eculizumab have shown efficacy for the treatment of atypical hemolytic uremic syndrome (aHUS), but real-world evidence for ravulizumab is limited owing to its more recent approval.
Yan Wang +5 more
doaj
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.
Monir Hussein Bahgat +5 more
openaire +3 more sources