Associated Papers
Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.
Kahraman S et al.
Pediatric Research, 2025
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
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Alcaide P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
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
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
Edgetic perturbation models of human inherited disorders.
Zhong Q et al.
Molecular Systems Biology, 2009
Oxidative stress and platelet activation in homozygous homocystinuria.
Davì G et al.
Circulation, 2001
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
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Kozich V et al.
Journal of Inherited Metabolic Disease, 1997
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Shih VE et al.
American Journal of Human Genetics, 1995
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G et al.
American Journal of Human Genetics, 1995
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL et al.
Human Molecular Genetics, 1993
Molecular defect in a patient with pyridoxine-responsive homocystinuria.
Kozich V et al.
Human Molecular Genetics, 1993