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Fibrinogen deficiency, also known as factor I deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the coagulation cascade. It is typically subclassified into four distinct fibrinogen disorders : afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia.
This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.. The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.
Complement factor I, also known as C3b/C4b inactivator, is a protein that in humans is encoded by the CFI gene.Complement factor I (factor I) is a protein of the complement system, first isolated in 1966 in guinea pig serum, [5] that regulates complement activation by cleaving cell-bound or fluid phase C3b and C4b. [6]
Northern Health is the publicly funded healthcare provider for the northern half of the Canadian province of British Columbia. Northern Health serves over 300,000 people in an area of 600,000 square kilometres. [1] It was established as one of five geographically based health authorities in 2001 by the Government of British Columbia. [2]
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Accounting for just below 6% of the provincial population, the Northern Health Region has a population of 74,175 people. With an area of over 396,000 km 2 (153,000 sq mi), the region has a population density of 0.18 persons per km²—compared to 2.19 persons per km² for the entire province of Manitoba.
NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation are responsible for the symptoms of this condition. [1] Clinically, most affected individuals display developmental delay, lack of tears, elevated liver transaminases and a movement ...
Malnutrition occurs when an organism gets too few or too many nutrients, resulting in health problems. [11] [12] Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely affects the body's tissues and form. [13] Malnutrition is a category of diseases that includes undernutrition and ...