Homocystinuria due to cystathionine β‐synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control
- 1 October 1998
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 21 (7) , 738-747
- https://doi.org/10.1023/a:1005445132327
Abstract
Homocystinuria (HCU) due to cystathionine β-synthase deficiency (Mudd et al 1964) was independently described by Gerritsen and colleagues (USA) and Carson and colleagues (Northern Ireland) in 1962....Keywords
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