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
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
Coudé M et al.
Journal of Inherited Metabolic Disease, 1998
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