Associated Papers
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N et al.
Bmc Ophthalmology, 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
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.
Saboul C et al.
Journal of Child Neurology, 2015
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Kwok JS et al.
Pathology, 2011
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
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
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