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protein
- Protein S deficiency is a disorder that increases the risk of developing blood clots. People with protein S deficiency are at risk of developing a type of clot ...
- Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood ...
- Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition ...
- Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without ...
- D-bifunctional protein deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with D- ...
- Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, ...
- Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually ...
- ... is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically ... from OSMR can also pair with a different protein to form the OSM receptor type II. Both ...
- ... have low levels (deficiency) of an immune system protein called mannose-binding lectin in their blood. Whether ... deficiency. This gene provides instructions for making a protein that assembles into a complex called mannose-binding ...
- ... type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the ... fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to ...