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Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

open access: yesActa Paediatr
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Immune Deficiency Diseases

Postgraduate Medicine, 1973
In the past few decades, bedside observation and laboratory investigation have yielded important information concerning the modus operandi of the immune system. This article examines newer basic immunologic information, clinical features of the main immune deficiencies, and tests for investigation of these defects.
P E, Hermans, R E, Ritts, G J, Gleich
openaire   +2 more sources

Trypsinogen Deficiency Disease

Archives of Pediatrics & Adolescent Medicine, 1967
TOWNES,1in 1965, reported a 6-week-old white male infant with chronic diarrhea, failure to gain weight, hypoproteinemia, and edema. The infant was unable to hydrolyze dietary protein due to a singular deficiency of pancreatic trypsinogen. The present report describes a second instance of this interesting defect.
M D, Morris, D A, Fisher
openaire   +2 more sources

Trypsinogen deficiency disease

The Journal of Pediatrics, 1964
An 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
openaire   +2 more sources

Complement deficiency and disease

Immunology Today, 1991
Complement deficiency is associated with an increased prevalence of pyogenic infections and immune complex disease. The spectrum of disease in deficient individuals depends on the stage in the complement system at which the block in activation occurs. Here, Paul Morgan and Mark Walport review current knowledge of hereditary complement deficiencies in ...
B P, Morgan, M J, Walport
openaire   +2 more sources

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