Associated Papers
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Acute pancreatitis as a key to diagnosis of hyperhomocysteinemia in a 12-year-old boy caused by CBS gene mutation.
Wang S et al.
Lancet (london, England), 2023
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine β-synthase-deficient rabbit generated using CRISPR/Cas9.
Zhang T et al.
Lipids in Health and Disease, 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
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S et al.
Molecular Genetics & Genomic Medicine, 2018
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Magner M et al.
Journal of Inherited Metabolic Disease, 2011
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Singh LR et al.
Molecular Genetics and Metabolism, 2007
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD et al.
Human Mutation, 2003
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Watanabe T et al.
The Journal of Medical Investigation : Jmi, 1997
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Singh RH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
The role of cystathionine beta-synthase in homocysteine metabolism.
Jhee KH et al.
Antioxidants & Redox Signaling, 0