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[A case of galactosemia caused by galactokinase deficiency].

Bolgiani Mp, M Gallenca, Barocelli Pc

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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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What this paper is about

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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OpenAlex reports 2 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Galactosemia, Cataracts, Galactokinase, Pathological, Pediatrics, Crystallin, Medicine, Galactose

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