公開日期 | 題名 | 作者 | 關聯 | scopus | WOS | 全文 |
1990 | Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy | Chen, Y. T.; Scheinman, J. I.; Park, H. K.; Coleman, R. A.; Roe, C. R. | N Engl J Med 323, 590-593 | | | |
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) | | | |
1992 | Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency | Ding, J. H.; Yang, B. Z.; Bao, Y.; Roe, C. R.; Chen, Y. T. | Am J Hum Genet 50, 229-233 | | | |
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 | | | |
1993 | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe | Gregersen, 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 | | | |
1991 | Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death | Ding, J. H.; Roe, C. R.; Iafolla, A. K.; Chen, Y. T. | N Engl J Med 325, 61-62 | | | |
1990 | Mutations in medium chain acyl-CoA dehydrogenase deficiency | Ding, J. H.; Roe, C. R.; Chen, Y. T.; Matsubara, Y.; Narisawa, K. | Lancet 336, 748-749 | | | |
1986 | The role of raw starches in the treatment of type I glycogenosis | Sidbury, J. B.; Chen, Y. T.; Roe, C. R. | Arch Intern Med 146, 370-373 | | | |
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 | | | |