Associated Papers
Adolescent-onset hyperhomocysteinaemia: cases report and literature review.
Li Y et al.
Neurocase, 2025
Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.
Kahraman S et al.
Pediatric Research, 2025
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
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
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
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.
Wei Q et al.
Proteins, 2010
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