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...

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Hlavní autoři:	Alicia Giner-Ayala, Celia Juana Angaroni, Raquel Dodelson de Kremer, Lidia Dora Martínez
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wolters Kluwer Medknow Publications 2021-01-01
Edice:	Journal of Clinical and Scientific Research
Témata:	acid sphingomyelinase biomarker lysosomes niemann-pick disease types a-b
On-line přístup:	http://www.jcsr.co.in/article.asp?issn=2277-5706;year=2021;volume=10;issue=4;spage=197;epage=201;aulast=Giner-Ayala
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