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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
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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Asıl Yazarlar: | , , , , , , , , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Wiley Subscription Services, Inc., A Wiley Company
2009
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Konular: | |
Online Erişim: | 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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