Protein‐bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine‐synthase deficiency

Protein-Bound Homocyst(e)ine in Normal Subjects and in Patients with Homocystinuria

1979 • 95 citations

Detection of heterozygotes for homocystinuria: Study of sulphur-containing amino acids in plasma and urine after L-methionine loading

1974 • 92 citations

Homocystinuria due to cystathionine synthase deficiency: Enzymatic and ultrastructural studies

1974 • 73 citations

Clinical consequences of heterozygosity for autosomal‐recessive diseases*,**

1984 • 67 citations

Homocystinuria: Studies in Tissue Culture

1973 • 65 citations

Cystathionine synthase deficiency: Heterozygote detection using cultured skin fibroblasta

1973 • 37 citations

Homocystinuria: Heterozygote Detection using Phytohemagglutinin-Stimulated Lymphocytes

1973 • 30 citations