<oai_dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:oai_dc="http://www.openarchives.org/OAI/2.0/oai_dc/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd">
  <dc:creator>Nowak A</dc:creator>
  <dc:creator>Mechtler T</dc:creator>
  <dc:creator>Kasper DC</dc:creator>
  <dc:creator>Desnick RJ</dc:creator>
  <dc:date>2017</dc:date>
  <dc:description xmlns:ns0="xml" ns0:lang="en">BACKGROUND
Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and "Later-Onset" phenotypes.


METHODS
The Lyso-Gb3 concentrations in DBS and sera from 56 FD patients were determined by highly sensitive electrospray ionization liquid chromatography tandem mass spectrometry.


RESULTS
The serum Lyso-Gb3 levels in 18 and 5 affected males with the Classic and Later-Onset phenotypes, were 61±38 and 14±12ng/mL, respectively. Lyso-Gb3 levels in 30 females from Classic families and three females from Later-Onset families were 10±5.4 and 2.4±1.0ng/mL, respectively. The linear regression model with serum Lyso-Gb3 as the dependent variable and DBS Lyso-Gb3 an independent variable was described by the function y=-1.83+1.68∗x and showed a high coefficient of determination, R2=0.976. The overall correlation between the Lyso-Gb3 levels in DBS and sera was high (R=0.99; p&lt;0.001).


CONCLUSION
DBS provides a convenient, sensitive, and reproducible source to measure Lyso-Gb3 levels for diagnosis, initial phenotypic assignment, and therapeutic monitoring in patients with Fabry disease.</dc:description>
  <dc:format>application/pdf</dc:format>
  <dc:identifier>https://sonar.ch/global/documents/47611</dc:identifier>
  <dc:language>eng</dc:language>
  <dc:relation>info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ymgme.2017.06.006</dc:relation>
  <dc:relation>info:eu-repo/semantics/altIdentifier/pmid/28663131</dc:relation>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:source>Molecular genetics and metabolism. - 2017</dc:source>
  <dc:subject xmlns:ns1="xml" ns1:lang="en">Dried blood spots (DBS)</dc:subject>
  <dc:subject xmlns:ns2="xml" ns2:lang="en">Fabry disease</dc:subject>
  <dc:subject xmlns:ns3="xml" ns3:lang="en">Lyso-Gb3</dc:subject>
  <dc:subject xmlns:ns4="xml" ns4:lang="en">α-Galactosidase A</dc:subject>
  <dc:subject xmlns:ns5="xml" ns5:lang="en">Adult</dc:subject>
  <dc:subject xmlns:ns6="xml" ns6:lang="en">Aged</dc:subject>
  <dc:subject xmlns:ns7="xml" ns7:lang="en">Biomarkers</dc:subject>
  <dc:subject xmlns:ns8="xml" ns8:lang="en">Chromatography, High Pressure Liquid</dc:subject>
  <dc:subject xmlns:ns9="xml" ns9:lang="en">Chromatography, Liquid</dc:subject>
  <dc:subject xmlns:ns10="xml" ns10:lang="en">Dried Blood Spot Testing</dc:subject>
  <dc:subject xmlns:ns11="xml" ns11:lang="en">Fabry Disease</dc:subject>
  <dc:subject xmlns:ns12="xml" ns12:lang="en">Female</dc:subject>
  <dc:subject xmlns:ns13="xml" ns13:lang="en">Glycolipids</dc:subject>
  <dc:subject xmlns:ns14="xml" ns14:lang="en">Heterozygote</dc:subject>
  <dc:subject xmlns:ns15="xml" ns15:lang="en">Humans</dc:subject>
  <dc:subject xmlns:ns16="xml" ns16:lang="en">Male</dc:subject>
  <dc:subject xmlns:ns17="xml" ns17:lang="en">Middle Aged</dc:subject>
  <dc:subject xmlns:ns18="xml" ns18:lang="en">Mutation</dc:subject>
  <dc:subject xmlns:ns19="xml" ns19:lang="en">Phenotype</dc:subject>
  <dc:subject xmlns:ns20="xml" ns20:lang="en">Regression Analysis</dc:subject>
  <dc:subject xmlns:ns21="xml" ns21:lang="en">Sphingolipids</dc:subject>
  <dc:subject xmlns:ns22="xml" ns22:lang="en">Tandem Mass Spectrometry</dc:subject>
  <dc:subject xmlns:ns23="xml" ns23:lang="en">alpha-Galactosidase</dc:subject>
  <dc:title xmlns:ns24="xml" ns24:lang="en">Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.</dc:title>
  <dc:type>http://purl.org/coar/resource_type/c_6501</dc:type>
</oai_dc:dc>