Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
2000 | Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders | Shen, 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 | | | |
2003 | Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry | Young, S. P.; Stevens, R. D.; An, Y.; Chen, Y. T.; Millington, D. S. | Anal Biochem 316, 175-180 | | | |
2006 | Comparison 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 disease | Zhang, 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 | | | |
2006 | Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia | 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 13, 1281-1289 | | | |
2007 | Early, 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 | | | |
1992 | Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles | Ding, 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) | | | |
2005 | Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease | An, Y.; Young, S. P.; Kishnani, P. S.; Millington, D. S.; Amalfitano, A.; Corz, D.; Chen, Y. T. | Mol Genet Metab 85, 247-254 | | | |
2000 | Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease | An, Y.; Young, S. P.; Hillman, S. L.; Van Hove, J. L.; Chen, Y. T.; Millington, D. S. | Anal Biochem 287, 136-143 | | | |
1993 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood | Van 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 | | | |
2003 | Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening | Koeberl, 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 | | | |
1992 | The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders | Millington, 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 | | | |