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.
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| Description | scientific article |
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author: Lenka Dvořáková Martin Hrebicek Linda Berná Ladislav Kuchař Petr Chrastina Befekadu Asfaw Jana Ledvinová Milan Elleder |
| Publication date | February 1, 2009 |
| Language | English |
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