The molecular basis of cystathionine β-synthase deficiency in Dutch patients with homocystinuria: Effect of CBS genotype on biochemical and clinical phenotype and on response to treatment - Kluijtmans, LAJ; Boers, GHJ; Kraus, JP; van den Heuvel, LPWJ; Cruysberg, JRM; Trijbels, FJM; Blom, HJ (Am J Hum Genet, 1999)