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Trypsinogen deficiency disease
The Journal of Pediatrics, 1964An infant with severe growth failure, hypoproteinemia, and edema is described. Clinical and laboratory studies indicate that this disorder results from an impaired capacity to hydrolyze ingested protein. By means of specific pancreatic proteolytic enzyme assays, it was established that the primary defect is a complete absence of trypsinogen. Absence of
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COMPLEMENT DEFICIENCY AND DISEASE [PDF]
Rheumatology, 1993 Summary of complement deficiencies Component Number of cases Chromosome location of gene Disease associations Classical pathway proteins Clq Clr/Cls C4 C2 I>40 10 17 t>100 A, B chains 1,p; C chain ? Closely linked on 12,p13 Two genes C4A and C4B in MHC on chromosome 6 MHC locus on chromosome 6, adjacent to factor B Alternative pathway components Factor
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2012
Chediak-Higashi Disease – Chronic Granulomatous Disease – Epidermodysplasia Verruciformis – Familial Mucocutaneous Candidiasis – Griscelli Syndrome Types 1 and 2 – Job Syndrome – Mucoepithelial Dysplasia – Wiskott-Aldrich ...
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Chediak-Higashi Disease – Chronic Granulomatous Disease – Epidermodysplasia Verruciformis – Familial Mucocutaneous Candidiasis – Griscelli Syndrome Types 1 and 2 – Job Syndrome – Mucoepithelial Dysplasia – Wiskott-Aldrich ...
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Complement deficiencies and human diseases
Annales de biologie clinique, 2014The complement system is a complex system involving serum and membrane proteins interacting in a regulated manner. The complement system plays a major role in antibacterial immunity, in inflammation, and in immune complex processing. Therefore, deficiencies in complement proteins are associated with increased susceptibility to bacterial infections and ...
Paula Vieira Martins +7 more
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Complement deficiency and disease: An update
Molecular Immunology, 2006Complement deficiencies are probably vastly under-diagnosed within clinical medicine. Judging from a Swedish study of C2 deficiency, a deficiency with an estimated prevalence of about 1/20,000 in Western countries, less than 10% of the deficiencies of the classical and alternative pathways and the late complement components are identified in Sweden. C1
Lennart Truedsson +4 more
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1999
Just over 25 years ago, De Weerdt and Castelain [1] described the combination of progressive muscular weakness and dystrophic epidermolysis bullosa with an autosomal recessive pattern. Niemi et al. [2] described a Finnish sibship with normal parents and 12 members.
Josanne Aquilina +4 more
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Just over 25 years ago, De Weerdt and Castelain [1] described the combination of progressive muscular weakness and dystrophic epidermolysis bullosa with an autosomal recessive pattern. Niemi et al. [2] described a Finnish sibship with normal parents and 12 members.
Josanne Aquilina +4 more
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Carbohydrate Deficiency Diseases
1997Recent refinements in carbohydrate analytical methodology and the application of molecular cloning techniques have defined a whole new area of carbohydrate pathology. Several forms of carbohydrate deficiency diseases have been described. These relate to impairment of glycoprotein processing or biosynthesis.
William Kuhns, Inka Brockhausen
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The Immunological Deficiency Diseases
Medical Clinics of North America, 1970Richard A. Gatti +2 more
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