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Results 11 - 20 of 49 for Abnormality of the liver
  1. ... extra fingers or toes (polydactyly). Additional features include abnormalities in one or more organs, including the heart, kidneys, liver, and intestines. The severity of this condition is ...
  2. ... body. Affected individuals can have enlargement of the liver and spleen (hepatosplenomegaly), blood cell abnormalities, and rarely, severe neurological problems. The variants occur ...
  3. ... lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome. More About This Health Condition 3MC3 CL-34 CL-L1 CLL1 collectin liver 1 collectin liver protein 1 collectin sub-family ...
  4. ... Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing ...
  5. ... have fewer copies of mtDNA (mtDNA depletion). This abnormality is seen ... brain, muscle, and liver. These tissues are most affected because they are ...
  6. ... The most widely studied polymorphism associated with this abnormality, ... compounds into the liver, which leads to elevated levels of the compounds ...
  7. ... and platelets may account for the other blood abnormalities that sometimes occur in ... digest fats) from the liver, where bile is produced, to the gallbladder, where ...
  8. ... acid also plays a role in the skeletal abnormalities found in severe cases. ... affect how the liver processes medications. The role of this enzyme in ...
  9. The PKLR gene is active (expressed) in the liver and in red blood cells, where it provides ... R/L pyruvate kinase type L pyruvate kinase, liver and blood cell pyruvate kinase, liver and RBC ...
  10. ... but its activity (expression) is highest in the liver. Within cells, the FALDH enzyme is located in the ... neurological abnormalities; and eye problems. Many of these mutations change ...
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