نتایج جستجو برای: hereditary diseases

تعداد نتایج: 878763  

2014
Betul Sozeri Ozgur Kasapcopur

Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor nec...

Journal: :Postgraduate Medical Journal 1960

Journal: :The Journal of Nervous and Mental Disease 1915

Journal: :Okayama Igakkai Zasshi (Journal of Okayama Medical Association) 1954

Journal: :Proceedings of the Royal Society of Medicine 1973

Journal: :Journal of rehabilitation medicine 2010
Marie-Antoinette H Minis Joke S Kalkman Reinier P Akkermans Josephine A Engels Peter A Huijbregts Gijs Bleijenberg Rob A B Oostendorp Baziel G M van Engelen

OBJECTIVE To determine the number of employed people in a group of patients with neuromuscular diseases and in 3 separate subgroups (facioscapulo-humeral dystrophy, hereditary motor and sensory neuropathy, and myotonic dystrophy) to investigate any differences in employment status between the patient groups, and to identify factors related to employment status. DESIGN Cross-sectional study. ...

Journal: :The New England journal of medicine 2006
Karl Tryggvason Jaakko Patrakka Jorma Wartiovaara

N Engl J Med 2006;354:1387-401. Copyright © 2006 Massachusetts Medical Society. The inherited forms of proteinuria comprise a heterogeneous group of rare renal diseases in which glomerular dysfunction and proteinuria are prominent. Despite the rarity of hereditary proteinuria syndromes, genetic, biochemical, and structural studies of these diseases have made important contributions to our knowl...

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