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Results 91 - 100 of 1,563 for genetic ACID
  1. ... been identified in affected individuals. Most of these genetic changes alter single amino acids in aminomethyltransferase. Other mutations delete genetic material from ...
  2. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats into energy, particularly during ...
  3. Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly ...
  4. ... D, Heubi JE, Setchell KD, Russell DW. Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. ...
  5. ... amino acid) in the plectin protein. Specifically, this genetic change replaces the amino acid arginine with the amino acid tryptophan at protein ...
  6. ... this condition. More About This Health Condition MedlinePlus ... branched chain keto acid dehydrogenase complex) dihydrolipoyl dehydrogenase DLDH DLDH_HUMAN E3 ...
  7. ... been identified in affected individuals. Many of these genetic changes alter single amino acids in glycine dehydrogenase. Other mutations insert or delete ...
  8. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic Testing/Reference Desk ... Genetic Testing ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy
  9. ... mutation appears to be responsible for harderoporphyria; this genetic change replaces the amino acid glycine with the amino acid glutamic acid at ...
  10. The SLC7A9 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein ...
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