Associated Papers
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
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
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
Mendes MI et al.
Human Molecular Genetics, 2015
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
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI et al.
Journal of Inherited Metabolic Disease, 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
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
Urreizti R et al.
Human Mutation, 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
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998