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"(" -")-terri" acid
- Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms ...
- 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). ...
- 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 ...
- 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 ...
- Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way nerve cells (neurons) transmit information to other cells.Signs ...
- Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with ...
- ... 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 ...
- ... gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which ...
- ... 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. ...
- ... protein complex absorbs particular protein building blocks (amino acids) back into the blood. In particular, the amino acids cystine, ornithine, arginine, and lysine are absorbed back ...