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Results 1 - 10 of 34 for Abnormal metabolism
  1. SRD5A3 gene 
    ... Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov;133(11):3210-20. doi: ...
    https://medlineplus.gov/genetics/gene/srd5a3 - Genetics
  2. ETFDH gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfdh - Genetics
  3. ETFA gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfa - Genetics
  4. ETFB gene 
    ... are partially broken down, to build up to abnormal levels, especially when the body is under stress. Toxic products of incomplete metabolism damage cells in many body systems, resulting in ...
    https://medlineplus.gov/genetics/gene/etfb - Genetics
  5. POR gene 
    ... resulting excess of that molecule can stimulate the abnormal growth and fusion of bones.It is unclear whether mutations in the POR gene affect how the liver processes medications. The role of this enzyme in drug metabolism is an active area of research. More About ...
    https://medlineplus.gov/genetics/gene/por - Genetics
  6. DOLK gene 
    ... of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues. More About This Health Condition ... Buczkowska A, Swiezewska E, Lefeber DJ. Genetic defects in dolichol metabolism. J Inherit Metab Dis. 2015 Jan;38(1): ...
    https://medlineplus.gov/genetics/gene/dolk - Genetics
  7. CYP2C9 gene 
    ... polymorphisms, the enzyme activity is severely decreased and metabolism of warfarin is very slow. If people with warfarin sensitivity take the average dose (or more) of warfarin, they are at risk of an overdose, which can cause abnormal bleeding in the brain, gastrointestinal tract, or other ...
    https://medlineplus.gov/genetics/gene/cyp2c9 - Genetics
  8. MMAA gene 
    ... type A MMAA_HUMAN Tests of MMAA PubMed METABOLISM OF COBALAMIN ASSOCIATED A; MMAA NCBI Gene ClinVar ... patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat. 2004 Dec;24(6):509-16. ...
    https://medlineplus.gov/genetics/gene/mmaa - Genetics
  9. OPA3 gene 
    ... Tests of OPA3 PubMed OUTER MITOCHONDRIAL MEMBRANE LIPID METABOLISM REGULATOR OPA3; OPA3 NCBI Gene ClinVar Anikster Y, ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  10. HAMP gene 
    ... C. Hepcidin: Homeostasis and Diseases Related to Iron Metabolism. Acta Haematol. 2017;137(4):220-236. doi: ...
    https://medlineplus.gov/genetics/gene/hamp - Genetics
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