Gaucher disease: when molecular testing and clinical presentation disagree-the novel c.1226A>G(p.N370S)–RecNcil allele

Por Balwani, Manisha, Grace, Marie E., Desnick, Robert J.
Publicado em 2011

Non–pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease

Por Grace, Marie E., Ashton-Prolla, Patricia, Pastores, Gregory M., Soni, Agnes, Desnick, Robert J.
Publicado em 1999

Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

Por Wozniak, Marcella A., Kittner, Steven J., Tuhrim, Stanley, Cole, John W., Stern, Barney, Dobbins, Mark, Grace, Marie E., Nazarenko, Irina, Dobrovolny, Robert, McDade, Eric, Desnick, Robert J.
Publicado em 2009