Associated Papers
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Averdunk L et al.
Journal of Inherited Metabolic Disease, 2023
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
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
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
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
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R et al.
Journal of Human Genetics, 2006
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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