EBV-associated LPDs
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Disease group (mechanisms)
Articles
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EBV-associated lymphoproliferative diseases
22 August 2004 -
Niemann-Pick diseases
16 October 2003Niemann-Pick disease, NPDs
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polyposes
14 March 2007polyposis
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inherited presenile dementias
29 March 2008presenile degenerative brain disorders
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iron-linked diseases
1 January 2008iron-linked disorders
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inherited ossifying diseases
13 September 2007Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
Types
Fibrodysplasia Ossificans Progressiva (FOP) FOP is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or (...) -
thrombotic microangiopathy
15 April 2005thrombotic microangiopathies, Moschkowitz syndrome, TMA
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storage diseases
25 October 2005According to the storing cell
hepatocytic storage diseases
macrophagic storage diseases
neuronal storage diseases
According to the storing organ
hepatic storage diseases
splenic storage diseases
pulmonary storage diseases
cerebral storage diseases
renal storage diseases
medullary storage diseases
According to the storing organnelle
lysosomal storage diseases
endoplasmic reticulum storage diseases
cytoplasmic storage diseases
extracellular storage (...) -
mucopolysaccharidoses
28 January 2006Definition: The mucopolysaccharidoses (MPS) are a group of closely related syndromes that result from genetically determined deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans).
They are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ (...) -
citrullinemia
25 September 2008classic citrullinemia, argininosuccinate deficiency, citrullinuria