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Article

Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemia

1 Nov 2000

Abstract excerpt

Impairment of the human enzyme UDPgalactose 4-epimerase (hGALE) results in epimerase-deficiency galactosaemia, an inborn error of metabolism with variable biochemical presentation and clinical outcomes reported to range from benign to severe. Molecular studies of the hGALE loci from patients with epimerase deficiency reveal significant allelic heterogeneity, raising the possibility that variable genotypes may...

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PMID: 11117433
DOI: 10.1023/a:1005682913784

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Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemiaPMID 11117433Read ↗

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