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Results 91 - 100 of 792 for Metabolism
  1. Glutathione synthetase deficiency 
    ... Norgren S. Physiological and pathological aspects of GSH metabolism. Acta Paediatr. 2005 Feb;94(2):132-7. ... Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. Orphanet J Rare Dis. 2007 Mar ...
    https://medlineplus.gov/.../glutathione-synthetase-deficiency - Genetics
  2. Infantile neuroaxonal dystrophy 
    ... in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping ... signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  3. PCBD1 gene 
    ... gene leads to mild hyperphenylalaninemia with defective cofactor metabolism. Am J Hum Genet. 1993 Sep;53(3): ... on PubMed Central Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3): ...
    https://medlineplus.gov/genetics/gene/pcbd1 - Genetics
  4. PNPO gene 
    ... oxidase. This enzyme is involved in the breakdown (metabolism) of vitamin B6. Specifically, it chemically modifies two ... many chemical reactions in the body, including protein metabolism and the processing of chemicals that transmit signals ...
    https://medlineplus.gov/genetics/gene/pnpo - Genetics
  5. Hepatic lipase deficiency 
    ... of its Role on Plasma Lipid and Lipoprotein Metabolism. J Atheroscler Thromb. 2015;22(10):1001-11. ... FK, Dolnikowski GG, Taskinen MR, Lichtenstein AH. Lipoprotein metabolism in subjects with hepatic lipase deficiency. Metabolism. 2004 ...
    https://medlineplus.gov/genetics/condition/hepatic-lipase-deficiency - Genetics
  6. CYP2C19 gene 
    ... genes are involved in the formation and breakdown (metabolism) of various molecules and chemicals within cells. The ... Because the CYP2C19 enzyme is involved in the metabolism of many drugs, changes to the enzyme can ...
    https://medlineplus.gov/genetics/gene/cyp2c19 - Genetics
  7. AHCY gene 
    ... in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A. 2004 ... on PubMed Central Biochemistry (fifth edition, 2002): Methionine Metabolism Buist NR, Glenn B, Vugrek O, Wagner C, ...
    https://medlineplus.gov/genetics/gene/ahcy - Genetics
  8. PLA2G6 gene 
    ... in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping ... signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder ...
    https://medlineplus.gov/genetics/gene/pla2g6 - Genetics
  9. APOB gene 
    ... JR. Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci. 2005;42(5- ... Lin X, Yue P. Familial hypobetalipoproteinemia: genetics and metabolism. Cell Mol Life Sci. 2005 Jun;62(12): ...
    https://medlineplus.gov/genetics/gene/apob - Genetics
  10. GNMT gene 
    ... Citation on PubMed Biochemistry (fifth edition, 2002): Methionine Metabolism Chen SY, Lin JR, Darbha R, Lin P, ... methyltransferase give insights into its role in methionine metabolism. Hum Genet. 2002 Jan;110(1):68-74. ...
    https://medlineplus.gov/genetics/gene/gnmt - Genetics
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