Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.
Sampaolo S, et al. Among authors: esposito t.
Orphanet J Rare Dis. 2013 Oct 10;8:159. doi: 10.1186/1750-1172-8-159.
Orphanet J Rare Dis. 2013.
PMID: 24107549
Free PMC article.