Newborn Screening for X-Linked Adrenoleukodystrophy

by Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond
Published 2016-12-01

Bezafibrate for X-linked adrenoleukodystrophy.

by Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B Moser, Inge M E Dijkstra, Ronald J A Wanders, Bwee Tien Poll-The, Stephan Kemp
Published 2012-01-01

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.

by Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A Mamer, Lawrence Sweetman, Ann B Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A Mitchell
Published 2013-01-01