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- W2023600512 abstract "We have described a family which has a combination of rare genetic alleles for the enzyme erythrocyte galactose-1-phosphate-uridyl transferase. The father has a combination of the Los Angeles and classical galactosemic alleles. The mother has a combination of the Duarte and classical galactosemic alleles. Their five children present various conbinations of these three alleles. One has classical galactosemia but she had, however, an atypical clinical presentation in that she survived for 8 months while being fed a normal diet. Despite this period of galactose ingestion she is of normal intelligence." @default.
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- W2023600512 date "1971-12-01" @default.
- W2023600512 modified "2023-09-24" @default.
- W2023600512 title "Sorbitol and mannitol in human urine" @default.
- W2023600512 cites W2040357427 @default.
- W2023600512 doi "https://doi.org/10.1016/0009-8981(71)90236-1" @default.
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