Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. [electronic resource]
- The Journal of clinical investigation Jun 2007
- 1585-94 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Intramural
0021-9738
10.1172/JCI30954 doi
Animals Base Sequence DNA Primers--genetics Disease Models, Animal Female Hexosamines--therapeutic use Humans Kidney Diseases--drug therapy Kidney Glomerulus--metabolism Mice Mice, Inbred C57BL Mice, Mutant Strains Mice, Transgenic Microscopy, Electron Models, Biological Multienzyme Complexes--genetics N-Acetylneuraminic Acid--biosynthesis Pregnancy Proteinuria--drug therapy