TY  - GEN
AU  - Galeano,Belinda
AU  - Klootwijk,Riko
AU  - Manoli,Irini
AU  - Sun,MaoSen
AU  - Ciccone,Carla
AU  - Darvish,Daniel
AU  - Starost,Matthew F
AU  - Zerfas,Patricia M
AU  - Hoffmann,Victoria J
AU  - Hoogstraten-Miller,Shelley
AU  - Krasnewich,Donna M
AU  - Gahl,William A
AU  - Huizing,Marjan
TI  - Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
SN  - 0021-9738
PY  - 2007///0710
KW  - Animals
KW  - Base Sequence
KW  - DNA Primers
KW  - genetics
KW  - Disease Models, Animal
KW  - Female
KW  - Hexosamines
KW  - therapeutic use
KW  - Humans
KW  - Kidney Diseases
KW  - drug therapy
KW  - Kidney Glomerulus
KW  - metabolism
KW  - Mice
KW  - Mice, Inbred C57BL
KW  - Mice, Mutant Strains
KW  - Mice, Transgenic
KW  - Microscopy, Electron
KW  - Models, Biological
KW  - Multienzyme Complexes
KW  - N-Acetylneuraminic Acid
KW  - biosynthesis
KW  - Pregnancy
KW  - Proteinuria
N1  - Publication Type: Journal Article; Research Support, N.I.H., Intramural
UR  - https://doi.org/10.1172/JCI30954
ER  -