|1.||Sparks, Susan E: 1 article (11/2005)|
|2.||Gahl, William A: 1 article (11/2005)|
|3.||Orvisky, Eduard: 1 article (11/2005)|
|4.||Huizing, Marjan: 1 article (11/2005)|
|5.||Klootwijk, Riko: 1 article (11/2005)|
|6.||Ciccone, Carla: 1 article (11/2005)|
|7.||Krasnewich, Donna M: 1 article (11/2005)|
|8.||Savelkoul, Paul J: 1 article (11/2005)|
|9.||Dalakas, Marinos C: 1 article (11/2005)|
|10.||Lalor, Molly: 1 article (11/2005)|
|1.||Sialic Acid Storage Disease (Salla Disease)
04/25/1991 - "In biochemical studies, CMP-NeuAc (50 microM) inhibited the UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase of normal fibroblasts by 84-100%, but inhibited the epimerase from sialuria cells by only 19-31%. "
06/01/1999 - "Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. "
02/01/1993 - "Sialuria is a rare inborn error of sialic acid (NeuAc) metabolism resulting from failure of CMP-NeuAc to adequately feedback inhibit the rate-limiting enzyme in sialic acid synthesis, UDP N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. "
|2.||Muscular Diseases (Myopathy)
11/01/2005 - "Hereditary inclusion body myopathy (HIBM) is an autosomal recessive neuromuscular disorder associated with mutations in uridine diphosphate (UDP)-N-acetylglucosamine (GlcNAc) 2-epimerase (GNE)/N-acetylmannosamine (ManNAc) kinase (MNK), the bifunctional and rate-limiting enzyme of sialic acid biosynthesis. "
|1.||Uridine Diphosphate (UDP)
|2.||Uridine Diphosphate N-Acetylglucosamine
|3.||Cytidine Monophosphate (CMP)
|4.||N-Acetylneuraminic Acid (Sialic Acid)