Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte

Por Weisfeld-Adams, James D, Morrissey, Mark A, Kirmse, Brian M, Yu, Chunli, Wasserstein, Melissa P, Salveson, Bobbie R, McGuire, Peter J, Cohen-Pfeffer, Jessica L, Sunny, Sherlykutty, Caggana, Michele, Diaz, George A
Publicado em 2009

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Por Armangue, Thais, Orsini, Joseph J., Takanohashi, Asako, Gavazzi, Francesco, Conant, Alex, Ulrick, Nicole, Morrissey, Mark A., Nahhas, Norah, Helman, Guy, Gordish-Dressman, Heather, Orcesi, Simona, Tonduti, Davide, Stutterd, Chloe, van Haren, Keith, Toro, Camilo, Iglesias, Alejandro D., van der Knaap, Marjo S., Mansky, Raphaela Goldbach, Moser, Anne B, Jones, Richard O, Vanderver, Adeline
Publicado no Mol Genet Metab (2017)