Associated Papers
Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis.
Zhu Z et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2024
Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.
Khalil A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2024
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Candela E et al.
Children (basel, Switzerland), 2023
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
Classical homocystinuria, is it safe to exercise?
Tankeu AT et al.
Molecular Genetics and Metabolism Reports, 2021
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
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
Feng LF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Ibrahim S et al.
Molecular Biology Reports, 2018
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX et al.
World Journal of Pediatrics : Wjp, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.
Yadav PK et al.
The Journal of Biological Chemistry, 2012
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.
Zaidi SH et al.
Clinical Genetics, 2012
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
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
Lee SJ et al.
Journal of Human Genetics, 2005
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
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
De Franchis R et al.
European Journal of Pediatrics, 1998
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