Results 321 to 330 of about 13,095,395 (361)
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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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Journal of Prescribing Practice
In this month's article, George Winter looks at how ethical concerns about rare diseases may only be addressed by using the language of the ...
George Winter
semanticscholar +1 more source
In this month's article, George Winter looks at how ethical concerns about rare diseases may only be addressed by using the language of the ...
George Winter
semanticscholar +1 more source
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
openaire +2 more sources
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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Genomic newborn screening for rare diseases
Nature reviews genetics, 2023Zornitza Stark, R. Scott
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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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Rare diseases in ophthalmology
Archivos de la Sociedad Española de Oftalmología (English Edition), 2022J, Jiménez Benito +3 more
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Knowledge-based approaches to drug discovery for rare diseases
Drug Discovery Today, 2022Anthony Hickey +2 more
exaly