Associated Papers
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.
Dilanthi HW et al.
Jimd Reports, 2025
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Averdunk L et al.
Journal of Inherited Metabolic Disease, 2023
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
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
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
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M et al.
Molecular Genetics and Metabolism, 2004
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
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