Detection of acid sphingomyelinase in human saliva and its advantages in the diagnosis of Niemann-Pick disease type B
Background: Niemann-Pick disease type B is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM) coded by SMPD1 gene. Diagnostic assays for this enzyme were developed using fibroblasts, leukocytes, plasma and dry blood spots, however, there are no ex...
محفوظ في:
| المؤلفون الرئيسيون: | , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Wolters Kluwer Medknow Publications
2021-01-01
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| سلاسل: | Journal of Clinical and Scientific Research |
| الموضوعات: | |
| الوصول للمادة أونلاين: | http://www.jcsr.co.in/article.asp?issn=2277-5706;year=2021;volume=10;issue=4;spage=197;epage=201;aulast=Giner-Ayala |
| الوسوم: |
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