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Browsing by Author Millington, D. S.


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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
2000Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disordersShen, J. J.; Matern, D.; Millington, D. S.; Hillman, S.; Feezor, M. D.; Bennett, M. J.; Qumsiyeh, M.; Kahler, S. G.; Chen, Y. T.; Van Hove, J. L.J Inherit Metab Dis 23, 27-44
2003Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometryYoung, S. P.; Stevens, R. D.; An, Y.; Chen, Y. T.; Millington, D. S.Anal Biochem 316, 175-180
2006Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe diseaseZhang, H.; Kallwass, H.; Young, S. P.; Carr, C.; Dai, J.; Kishnani, P. S.; Millington, D. S.; Keutzer, J.; Chen, Y. T.; Bali, D.Genet Med 8, 302-306
2006Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type IaKoeberl, D. D.; Sun, B. D.; Damodaran, T. V.; Brown, T.; Millington, D. S.; Benjamin, D. K.; Bird, A.; Schneider, A.; Hillman, S.; Jackson, M.; Beaty, R. M.; Chen, Y. T.Gene Ther 13, 1281-1289
2007Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia (vol 13, pg 1281, 2006)Koeberl, D. D.; Sun, B. D.; Damodaran, T. V.; Brown, T.; Millington, D. S.; Benjamin, D. K.; Bird, A.; Schneider, A.; Hillman, S.; Jackson, M.; Beaty, R. M.; Chen, Y. T.Gene Ther 14(3), 281
1992Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant allelesDing, J. -H.; Bross, P.; Yang, B. -Z.; Iafolla, A. K.; Millington, D. S.; Roe, C. R.; Gregersen, N.; Chen, Y. -T.New Developments in fatty acid oxidation (New York : Wiley-Liss)
2005Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe diseaseAn, Y.; Young, S. P.; Kishnani, P. S.; Millington, D. S.; Amalfitano, A.; Corz, D.; Chen, Y. T.Mol Genet Metab 85, 247-254
2000Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe diseaseAn, Y.; Young, S. P.; Hillman, S. L.; Van Hove, J. L.; Chen, Y. T.; Millington, D. S.Anal Biochem 287, 136-143
1993Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in bloodVan Hove, J. L.; Zhang, W.; Kahler, S. G.; Roe, C. R.; Chen, Y. T.; Terada, N.; Chace, D. H.; Iafolla, A. K.; Ding, J. H.; Millington, D. S.Am J Hum Genet 52, 958-966
2003Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screeningKoeberl, D. D.; Young, S. P.; Gregersen, N. S.; Vockley, J.; Smith, W. E.; Benjamin, D. K.; An, Y.; Weavil, S. D.; Chaing, S. H.; Bali, D.; McDonald, M. T.; Kishnani, P. S.; Chen, Y. T.; Millington, D. S.Pediatr Res 54, 219-223
1992The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disordersMillington, D. S.; Terada, N.; Chace, D. H.; Chen, Y. T.; Ding, J. H.; Kodo, N.; Roe, C. R.Prog Clin Biol Res 375, 339-354
Showing results 1 to 11 of 11
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