Galeano, Belinda

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