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Browsing by Author Roe, C. R.


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Showing results 1 to 9 of 9
Issue DateTitleAuthor(s)RelationscopusWOSFulltext/Archive link
1990Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapyChen, Y. T.; Scheinman, J. I.; Park, H. K.; Coleman, R. A.; Roe, C. R.N Engl J Med 323, 590-593
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)
1992Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyDing, J. H.; Yang, B. Z.; Bao, Y.; Roe, C. R.; Chen, Y. T.Am J Hum Genet 50, 229-233
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
1993Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern EuropeGregersen, N.; Winter, V.; Curtis, D.; Deufel, T.; Mack, M.; Willems, P.; Ponzone, A.; Parrella, T.; Ponzone, K.; Ding, J. H.; Zhang, W.; Chen, Y. T.; Kahler, S.; Roe, C. R.; Kolvraa, S.; Schneiderman, K.; Andresen, B. S.; Bross, P.; Bolund, L.Hum Hered 43, 342-350
1991Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant deathDing, J. H.; Roe, C. R.; Iafolla, A. K.; Chen, Y. T.N Engl J Med 325, 61-62
1990Mutations in medium chain acyl-CoA dehydrogenase deficiencyDing, J. H.; Roe, C. R.; Chen, Y. T.; Matsubara, Y.; Narisawa, K.Lancet 336, 748-749
1986The role of raw starches in the treatment of type I glycogenosisSidbury, J. B.; Chen, Y. T.; Roe, C. R.Arch Intern Med 146, 370-373
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 9 of 9
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