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Results 1 - 10 of 1,153 for "±" -"2-Hydroxy-3-(2-hydroxyphenyl)propanoic" acid
  1. Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms ...
  2. Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
  3. Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). ...
  4. Congenital bile acid synthesis defect type 2 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
  5. Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. ...
  6. Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with ...
  7. ... a protein called CCHC-type zinc finger nucleic acid binding protein. This protein has seven regions, called ... This Health Condition CCHC-type zinc finger, nucleic acid binding protein cellular nucleic acid binding protein cellular ...
  8. ... gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which ...
  9. ... a protein called system B(0) neutral amino acid transporter 1 (B0AT1). This protein transports certain protein building blocks (amino acids), namely those with a neutral charge, into cells. ...
  10. ... provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments ... recycle materials the cell no longer needs. Lysosomal acid lipase breaks down fats (lipids) such as triglycerides ...
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