Egasyn affects the processing of beta-glucuronidase in mouse liver.

по Pfister, K, Bosshard, N, Zopfi, M, Gitzelmann, R
Опубликовано 1988

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).

по Schnorf, H, Gitzelmann, R, Bosshard, N U, Spycher, M, Waespe, W
Опубликовано 1995

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.

по Orho, M, Bosshard, N U, Buist, N R, Gitzelmann, R, Aynsley-Green, A, Blümel, P, Gannon, M C, Nuttall, F Q, Groop, L C
Опубликовано 1998