Associated Papers
Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).
Althubity AA
Molecular Medicine Reports, 2026
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
Kožich V et al.
Journal of Inherited Metabolic Disease, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
38535124 (PubMed )
Supplement: IJNS-10-00020-s001.zip › 20231205_Supplementary_files_definitief_nieuwerefs.pdf
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
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM7_ESM.xlsx › Table_S5
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
Voskoboeva E et al.
Molecular Genetics and Metabolism Reports, 2018
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
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
Kopecká J et al.
Journal of Inherited Metabolic Disease, 2011
Vascular presentation of cystathionine beta-synthase deficiency in adulthood.
Magner M et al.
Journal of Inherited Metabolic Disease, 2011
Increased homocysteine in a patient diagnosed with Marfan syndrome.
Oladipo O et al.
Clinical Chemistry, 2010
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Linnebank M et al.
Human Mutation, 2004
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendáè M et al.
Human Mutation, 2004
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