Results 321 to 330 of about 11,580,920 (364)
P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke
Genetics in Medicine OpenKhurram Liaqat +4 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
openaire +3 more sources
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
openaire +3 more sources
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 ...
Baldovino, Simone +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 ...
Baldovino, Simone +3 more
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.
Kerry Chant, Elizabeth J Elliott
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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.
Kerry Chant, Elizabeth J Elliott
openaire +3 more sources
Rare and Ultra Rare Diseases [PDF]
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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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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Recenti progressi in medicina, 2014
"Rare" diseases are a family of different disorders or conditions affecting fewer than 1/2000 in the general population. Among them, 150 involve respiratory system. To date, most reviews in literature focuses on the more important pulmonary lung diseases without taking in account the overall framework and diagnostic and therapeutic algorithms that ...
Franco Salvati +2 more
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"Rare" diseases are a family of different disorders or conditions affecting fewer than 1/2000 in the general population. Among them, 150 involve respiratory system. To date, most reviews in literature focuses on the more important pulmonary lung diseases without taking in account the overall framework and diagnostic and therapeutic algorithms that ...
Franco Salvati +2 more
openaire +2 more sources
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
openaire +3 more sources
Machine learning in rare disease
Nature Methods, 2023Jineta Banerjee +5 more
semanticscholar +1 more source