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

Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A–D. We report on two new patients with PS...

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Main Authors: Kuchař, Ladislav, Ledvinová, Jana, Hřebíček, Martin, Myšková, Helena, Dvořáková, Lenka, Berná, Linda, Chrastina, Petr, Asfaw, Befekadu, Elleder, Milan, Petermöller, Margret, Mayrhofer, Heidi, Staudt, Martin, Krägeloh-Mann, Ingeborg, Paton, Barbara C, Harzer, Klaus
格式: Artigo
語言:Inglês
出版: Wiley Subscription Services, Inc., A Wiley Company 2009
主題:
Research Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3437469/
https://ncbi.nlm.nih.gov/pubmed/19267410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32712
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