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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 TreatmentKluijtmans, Leo A.J. ; Boers, Godfried H.J. ; Kraus, Jan P. ; van den Heuvel, Lambert P. W.J. ; Cruysberg, Johan R.M. ; Trijbels, Frans J.M. ; Blom, Henk J.American journal of human genetics, 1999-07, Vol.65 (1), p.59-67 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |