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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

✍ Scribed by Ladislav Kuchař; Jana Ledvinová; Martin Hřebíček; Helena Myšková; Lenka Dvořáková; Linda Berná; Petr Chrastina; Befekadu Asfaw; Milan Elleder; Margret Petermöller; Heidi Mayrhofer; Martin Staudt; Ingeborg Krägeloh-Mann; Barbara C. Paton; Klaus Harzer


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
298 KB
Volume
149A
Category
Article
ISSN
1552-4825

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