Associated Papers
Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.
Kahraman S et al.
Pediatric Research, 2025
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.
Yamada K et al.
International Journal of Neonatal Screening, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
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
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Long follow up of betaine therapy in two Japanese siblings with cystathionine beta-synthase deficiency.
Yokoi K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
Meier M et al.
The Embo Journal, 2001
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