Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy

by Jennifer L. Cohen, Jessica Burfield, Karen Valdez-Gonzalez, Angela Samuels, Arianna K. Stefanatos, Marc Yudkoff, Helio Pedro, Can Ficicioglu
Published 2019-08-01

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.

by Min Peng, Marni J Falk, Volker H Haase, Rhonda King, Erzsebet Polyak, Mary Selak, Marc Yudkoff, Wayne W Hancock, Ray Meade, Ryoichi Saiki, Adam L Lunceford, Catherine F Clarke, David L Gasser
Published 2008-04-01