Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
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) | | | |
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 | | | |
1992 | Mutations causing medium-chain acyl-coA dehydrogenase deficiency: A collaborative compilation of the data from 172 patients | Coates, P. M.; Chen, Y. -T.; Curtis, D.; Gregersen, N.; Kelly, D. P.; Matsubara, Y.; Yokota, I. | New developments in fatty acid oxidation (USA : Wiley) | | | |
1992 | Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene | Tanaka, K.; Yokota, I.; Coates, P. M.; Strauss, A. W.; Kelly, D. P.; Zhang, Z.; Gregersen, N.; Andresen, B. S.; Matsubara, Y.; Curtis, D.; Chen, Y. T. | Hum Mutat 1, 271-279 | | | |