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Case Reports
. 1984 Mar-Apr;6(2):333-5.

[A case of galactosemia caused by galactokinase deficiency]

[Article in Italian]
  • PMID: 6531256
Case Reports

[A case of galactosemia caused by galactokinase deficiency]

[Article in Italian]
M P Bolgiani et al. Pediatr Med Chir. 1984 Mar-Apr.

Abstract

The authors describe an original case of galactokinase deficiency, born from a gypsies' family. He developed cataracts in the first two months of life. No other pathological features were observed. One of the brothers of the propositus was also blind for cataracts. The authors discuss the biochemical differences among the varieties of galactosaemia, and their relationship with the clinical differences.

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