High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

Life Sciences, Biochemistry, Genetics +10

Edgetic perturbation models of human inherited disorders

Quan Zhong, Nicolas Simonis, Qianru Li et al. · Molecular Systems Biology · 2009 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17.

M. Münke, Jan P. Kraus, T. Ohura et al. · PubMed · 1988 · 131 citations

Life Sciences, Genetics, Molecular Genetics +4

The Human Cystathionine β-Synthase (CBS) Gene: Complete Sequence, Alternative Splicing, and Polymorphisms

Jan P. Kraus, Jana Oliveriusová, Jitka Sokolová et al. · Genomics · 1998 · 126 citations

Life Sciences, Genetics, Molecular Genetics +7

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

Leo A. J. Kluijtmans, Godfried H.J. Boers, Jan P. Kraus et al. · The American Journal of Human Genetics · 1999 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8