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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… 
National Institutes of Health

Related topics

Related topics

22 relations
Bile Acid Malabsorption, PrimaryChildhood Breast CarcinomaChildhood Colorectal CarcinomaChildhood Gastric Carcinoma

Narrower (3)

Oculootoradial syndromeOrphan DiseasesREVESZ SYNDROME (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
Dementia lacking distinctive histology (DLDH) revisited
Although immunohistochemistry has helped to classify the histology of frontotemporal lobar degeneration (FTLD), there have been… 
Highly Cited
2005
Highly Cited
2005
Spring harvest? Reflections on the rise of type 1 diabetes
Childhood diabetes appears to have been a relatively rare disorder in Europe and North America in the first half of the 20th… 
Review
2004
Review
2004
11beta-hydroxysteroid dehydrogenase type 1 as a modulator of glucocorticoid action: from metabolism to memory.
Increases in plasma cortisol and glucocorticoid pharmacotherapy cause myriad adverse effects from obesity and diabetes to… 
Highly Cited
1999
Highly Cited
1999
Cerebellar ataxia with glutamic acid decarboxylase autoantibodies
Article abstract Degenerative cerebellar ataxia with autoantibodies against glutamic acid decarboxylase (GAD) is a rare disorder… 
Review
1997
Review
1997
Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.
Review
1996
Review
1996
Cocaine-associated agitated delirium and the neuroleptic malignant syndrome.
Highly Cited
1996
Highly Cited
1996
The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans.
Highly Cited
1987
Highly Cited
1987
Absence of the plasma growth hormone-binding protein in Laron-type dwarfism.
We recently described a specific, high affinity binding protein (BP) for growth hormone (GH) in normal human plasma. Little is… 
Highly Cited
1969
Highly Cited
1969
Studies on red cell aplasia. II. Report of a second patient with an antibody to erythroblast nuclei and a remission after immunosuppressive therapy.
When the marrow from a patient with red cell aplasia was incubated in vitro a marked increase in heme synthesis occurred. Heme… 
Highly Cited
1969
Highly Cited
1969
Acrodermatitis enteropathica: defective metabolism of unsaturated fatty acids.
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