Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Published 2019-06-01

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

by Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, Glenda Hendson, Renkui Bai, Michael A. Sargent, Pascal M. Lavoie, Millan Patel, Sylvia Stockler-Ipsiroglu
Published 2019-03-01

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

by Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschenes, Mattia Gentile, Mario Giordano, Andrew K. Gormley, Rajeshree Govender, Mark Joseph, Kory Keller, Evelyne Lerut, Elena Levtchenko, Laura Massella, Christy Mayfield, Behzad Najafian, David Parham, Jurgen Spranger, Peter Stenzel, Uluc Yis, Zhongxin Yu, Jonathan Zonana, Glenda Hendson, Cornelius F. Boerkoel
Published 2016-11-01