Associated Papers
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M et al.
Gene, 2014
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M et al.
Human Mutation, 2011
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Jakubowski H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M et al.
Human Mutation, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
Urreizti R et al.
Human Mutation, 2006
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R et al.
Human Mutation, 2003
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
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