Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease-Reference-Cited by-同舟云学术

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

Published:2015-03-12 Issue:5 Volume:38 Page:923-929
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Turgeon Coleman T.,Orsini Joseph J.,Sanders Karen A.,Magera Mark J.,Langan Thomas J.,Escolar Maria L.,Duffner Patricia,Oglesbee Devin,Gavrilov Dimitar,Tortorelli Silvia,Rinaldo Piero,Raymond Kimiyo,Matern Dietrich

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9822-z

Reference17 articles.

1. Annesley TM (2003) Ion suppression in mass spectrometry. Clin Chem 49:1041–1044

2. Cantuti Castelvetri L, Givogri MI, Hebert A et al (2013) The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3beta and deregulation of molecular motors. J Neurosci 33:10048–10056

3. Chuang WL, Pacheco J, Zhang XK et al (2013) Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. Clin Chim Acta 419:73–76

4. Duffner PK, Caggana M, Orsini JJ et al (2009) Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol 40:245–252

5. Escolar ML, Poe MD, Provenzale JM et al (2005) Transplantation of umbilical-cord blood in babies with infantile Krabbe’s disease. N Engl J Med 352:2069–2081

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