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Vascular presentation of cystathionine beta‐synthase deficiency in adulthood

21 Jun 2010

Abstract excerpt

Several recent studies describing a solely vascular presentation of cystathionine beta-synthase (CBS) deficiency in adulthood prompted us to analyze the frequency of patients manifesting with vascular complications in the Czech Republic. Between 1980 and 2009, a total of 20 Czech patients with CBS deficiency have been diagnosed yielding an incidence of 1:311,000. These patients were divided into three groups...

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PMID: 20567906
DOI: 10.1007/s10545-010-9146-y

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