Concepedia

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts

Godfried H.J. Boers, Brian Fowler, A. G. H. Smals, Frans J.M. Trijbels, Annelies I. Leermakers, Wim J. Kleijer, P. W. C. Kloppenborg

Human Genetics · 1985 · 92 citations · 20 references

DOI

Concepts

References

20

The Metabolic Basis of Inherited Disease

Matthew D. Crawford · Journal of Clinical Pathology · 1983 · 960 citations · Full text

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Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years.

G. H. J. Boers, A. G. H. Smals, F. Trijbels et al. · Journal of Clinical Investigation · 1983 · 154 citations · Full text

, , +16

Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria

David E.L. Wilcken, Vatsala Gupta · Metabolism · 1983 · 135 citations

, , +11

Homocystinuria

Brian Fowler, Jan P. Kraus, Seymour Packman et al. · Journal of Clinical Investigation · 1978 · 118 citations · Full text

, , +13

Homocystinuria due to Cystathionine Synthetase Deficiency: The Mode of Inheritance

James D. Finkelstein, S. Harvey Mudd, F. Irreverre et al. · Science · 1964 · 101 citations

, , +15