Kuchar L, Ledvinova J, Hrebicek M, Myskova H, Dvorakova L, Berna L, Chrastina P, Asfaw B, Elleder M, Petermoller M, Mayrhofer H, Staudt M, Krageloh-Mann I, Paton BC, Harzer K
Title
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
