Development of Transgenic Mice Containing an Introduced Stop Codon on the Human Methylmalonyl-CoA Mutase Locus

por Buck, Nicole E., Dashnow, Harriet, Pitt, James J., Wood, Leonie R., Peters, Heidi L.
Publicado 2012

Mouse Models for Methylmalonic Aciduria

por Peters, Heidi L., Pitt, James J., Wood, Leonie R., Hamilton, Natasha J., Sarsero, Joseph P., Buck, Nicole E.
Publicado 2012

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

por Fitzsimons, Patricia E., Alston, Charlotte L., Bonnen, Penelope E., Hughes, Joanne, Crushell, Ellen, Geraghty, Michael T., Tetreault, Martine, O'Reilly, Peter, Twomey, Eilish, Sheikh, Yusra, Walsh, Richard, Waterham, Hans R., Ferdinandusse, Sacha, Wanders, Ronald J. A., Taylor, Robert W., Pitt, James J., Mayne, Philip D.
Publicado 2018