Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Joseph C. Huey"'
Publikováno v:
Mitochondrion. 6:268
display slow growth, decreased mitochondrial membrane potential, and impaired respiratory capacity. These defects are reversed upon restoration of fusion capability. The importance of mitochondrial fusion is further underscored by the fact that two n
Autor:
Dietrich Matern, René Santer, Steven D. Edland, Susan A. Berry, Barbara K. Burton, Piero Rinaldo, Regina Ensenauer, Sarah C. Grünert, Jan Willard, Jerry Vockley, S. H. Hahn, Iris Marquardt, Jörn Oliver Sass, Hans Georg Koch, Joseph C. Huey
Publikováno v:
The American Journal of Human Genetics. (6):1136-1142
Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diag