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
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
Kopecká J et al.
Journal of Inherited Metabolic Disease, 2011
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V et al.
Human Mutation, 2010
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.
Gat-Yablonski G et al.
Human Mutation, 2000
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