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Landscape of parental postzygotic mutations in >11,000 rare disease trios
Garcia-Salinas OI +7 more
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Rare liver diseases are not rare in China
Liver International, 2022AbstractRare diseases, also known as orphan diseases, are a group of diseases that affect a relatively small number of people. Low incidence rates, atypical symptoms, imperfect diagnosis criteria and few treatment options impose medical, psychological and financial stress on the local healthcare system.
Tingting Lv, Jidong Jia
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2010
Under the term "autoimmune diseases" are comprised a large number of disorders with variable clinical expression which have in common an autoimmune pathogenesis as defined by direct, indirect or circumstantial evidence. Autoimmune diseases may affect a single organ or may determine a multisystem involvement, and most of them cause significant and ...
Arrigo, Schieppati, Erica, Daina
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Under the term "autoimmune diseases" are comprised a large number of disorders with variable clinical expression which have in common an autoimmune pathogenesis as defined by direct, indirect or circumstantial evidence. Autoimmune diseases may affect a single organ or may determine a multisystem involvement, and most of them cause significant and ...
Arrigo, Schieppati, Erica, Daina
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American Journal of Medical Genetics Part A, 2019
The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about ...
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The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about ...
openaire +2 more sources
Journal of Paediatrics and Child Health, 1994
AbstractRare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children.
E J, Elliott, K G, Chant
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AbstractRare diseases in children account for disproportionate morbidity and mortality and are particularly demanding of both families and health resources. Surveillance may provide data on their epidemiology, aetiology, management and outcome and on the support requirements of affected children.
E J, Elliott, K G, Chant
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2017
The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due ...
Simone, Baldovino +3 more
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The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due ...
Simone, Baldovino +3 more
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Journal of Child Neurology, 2012
Gaucher’s disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher’s disease has 3 types—non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III).
Bikash, Shrestha +2 more
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Gaucher’s disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher’s disease has 3 types—non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III).
Bikash, Shrestha +2 more
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Gastric sarcoidosis: rare presentation of a rare disease
Acta Clinica Belgica, 2014Gastrointestinal sarcoidosis is a rare form of extrapulmonary sarcoidosis. Most of the cases are represented by gastric involvement. We describe a patient with previous systemic sarcoidosis who presented with non-specific abdominal complaints. The workup showed the unusual combination of isolated active gastric sarcoidosis and quiescent activity of the
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Journal of Developing Drugs, 2012
In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal definition of a rare disease: In Japan the term “orphan disease” describes a condition with a prevalence of 2.5 cases per 10,000 population; in the US 7 cases per 10,000 population.
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In the last years, rare and ultra rare diseases have attracted worldwide more and more attention. However, there is no universal definition of a rare disease: In Japan the term “orphan disease” describes a condition with a prevalence of 2.5 cases per 10,000 population; in the US 7 cases per 10,000 population.
openaire +1 more source