Associated Papers
Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.
Kahraman S et al.
Pediatric Research, 2025
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.
Dilanthi HW et al.
Jimd Reports, 2025
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
Classical homocystinuria, is it safe to exercise?
Tankeu AT et al.
Molecular Genetics and Metabolism Reports, 2021
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
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
Voskoboeva E et al.
Molecular Genetics and Metabolism Reports, 2018
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
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Suri F et al.
Journal of the Neurological Sciences, 2014
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
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.
Lim JS et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M et al.
Human Mutation, 2011
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Increased homocysteine in a patient diagnosed with Marfan syndrome.
Oladipo O et al.
Clinical Chemistry, 2010
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
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ et al.
Journal of Human Genetics, 2005
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Kruger WD et al.
Human Mutation, 2003
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M et al.
Human Mutation, 2002
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
Meier M et al.
The Embo Journal, 2001
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Correction of disease-causing CBS mutations in yeast.
Shan X et al.
Nature Genetics, 1998
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
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