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Inherited disorders of glycosylation
Molecular Genetics and Metabolism, 2006Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread functions of glycosylation, inherited disorders of glycosylation are multisystemic.
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Inherited ion channel disorders
European Journal of Pediatrics, 2000The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis ...
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Understanding Inherited Disorders
The American Journal of Nursing, 1975LUCILLE S. WHALEY, KATHRYN E. BARNARD
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2018
This chapter discusses the clinical presentation and incidence of complications from inherited bleeding disorders during pregnancy including von Willebrand disease, hemophilia, and the factor deficiencies: fibrinogen, prothrombin, factor V, factor VII, factor VIII, factor IX, factor X, factor XI, and factor XIII.
James P. R. Brown, Joanne Douglas
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This chapter discusses the clinical presentation and incidence of complications from inherited bleeding disorders during pregnancy including von Willebrand disease, hemophilia, and the factor deficiencies: fibrinogen, prothrombin, factor V, factor VII, factor VIII, factor IX, factor X, factor XI, and factor XIII.
James P. R. Brown, Joanne Douglas
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Integrative oncology: Addressing the global challenges of cancer prevention and treatment
Ca-A Cancer Journal for Clinicians, 2022Jun J Mao,, Msce +2 more
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