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Rare Diseases

Known as: Rare Disease, Rare Diseases [Disease/Finding], disease rare 
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis… Expand
National Institutes of Health

Related topics

Related topics

22 relations
Bile Acid Malabsorption, PrimaryChildhood Breast CarcinomaChildhood Colorectal CarcinomaChildhood Gastric Carcinoma
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Narrower (3)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
C3 glomerulopathy — understanding a rare complement-driven renal disease
The C3 glomerulopathies are a group of rare kidney diseases characterized by complement dysregulation occurring in the fluid… Expand
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Review
2019
Review
2019
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone… Expand
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Review
2019
Review
2019
Drug repurposing: progress, challenges and recommendations
Given the high attrition rates, substantial costs and slow pace of new drug discovery and development, repurposing of 'old' drugs… Expand
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Review
2019
Review
2019
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for… Expand
Review
2018
Review
2018
Emergence of Monkeypox as the Most Important Orthopoxvirus Infection in Humans
Monkeypox is an emerging zoonotic disease recognized as the most important orthopoxvirus infection in humans in the smallpox post… Expand
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Review
2018
Review
2018
Genome Editing in Induced Pluripotent Stem Cells using CRISPR/Cas9
The development of the reprogramming technology led to generation of induced Pluripotent Stem Cells (iPSC) from a variety of… Expand
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Review
2018
Review
2018
IgG4‐related disease: review of the histopathologic features, differential diagnosis, and therapeutic approach
Immunoglobulin G4‐related disease (IgG4‐RD) is an uncommon disorder that demonstrates characteristic clinicopathologic features… Expand
Review
2018
Review
2018
NGS Technologies as a Turning Point in Rare Disease Research, Diagnosis and Treatment
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Aus-tralian population have a rare disease. Rare… Expand
Review
2018
Review
2018
ABCG5 and ABCG8: more than a defense against xenosterols
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of… Expand
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Review
2017
Review
2017
Prevalence and incidence of interstitial lung diseases in a multi-ethnic county of Greater Paris
The objective of the study was to estimate the prevalence and incidence of interstitial lung diseases (ILDs) in Seine-Saint-Denis… Expand
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