N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics-Reference-Cited by-同舟云学术

N8-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

Published:2015-07-15 Issue:1 Volume:39 Page:131-137
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Abela Lucia,Simmons Luke,Steindl Katharina,Schmitt Bernhard,Mastrangelo Massimo,Joset Pascal,Papuc Mihaela,Sticht Heinrich,Baumer Alessandra,Crowther Lisa M.,Mathis Déborah,Rauch Anita,Plecko Barbara

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9876-y.pdf

Reference29 articles.

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2. Becerra-Solano LE, Butler J, Castaneda-Cisneros G et al (2009) A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am J Med Genet A 149A(3):328–335

3. Cason AL, Ikeguchi Y, Skinner C et al (2003) X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Eur J Hum Genet 11(12):937–944

4. Chace DH (2001) Mass spectrometry in the clinical laboratory. Chem Rev 101(2):445–477

5. de Alencastro G, McCloskey DE, Kliemann SE et al (2008) New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. J Med Genet 45(8):539–543

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