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- W2128000585 abstract "Cystathionine β-synthase (CBS) deficiency was first demonstrated in 1964 in an eight-year-old mentally retarded girl with bilaterally dislocated optic lenses who excreted abnormally elevated amounts of homocystine in her urine [1]. Patients with similar metabolic abnormalities and clinical findings had first been discovered 2 years earlier by Carson and her colleagues during a survey of mentally backward children in Northern Ireland [2]. CBS deficiency has proven to be the most frequently encountered of the human genetic diseases causing homocystinuria and severe hyperhomocyst(e)inemia. Worldwide, it is detected with a frequency of about 1:344,000 by screening programs of the newborn, but this is undoubtedly an underestimate because some individuals are being missed [3]. This chapter will briefly focus on the major clinical manifestations and metabolic aspects of CBS deficiency." @default.
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- W2128000585 date "1997-01-01" @default.
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- W2128000585 title "Cystathionine β-Synthase Deficiency: Metabolic Aspects" @default.
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- W2128000585 doi "https://doi.org/10.1007/978-1-4615-5771-5_11" @default.
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