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Hereditary galactokinase deficiency

A baby with galactokinase deficiency, a recessive inborn error of galactose metabolism, is described. The case is exceptional in that there was no evidence of gypsy blood in the family concerned. The investigation of neonatal hyperbilirubinaemia led to the discovery of galactosuria. As noted by othe...

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Библиографические подробности
Главные авторы: Cook, J. G. H., Don, N. A., Mann, Trevor P.
Формат: Artigo
Язык:Inglês
Опубликовано: 1971
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1647736/
https://ncbi.nlm.nih.gov/pubmed/5109408
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