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d glyceric acid/microcephaly

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NakalaMajaribio ya klinikiHati miliki
1 matokeo

D(+)-glyceric aciduria: etiology and clinical consequences.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
A family comprising mother, father, and five children is described. Four of the children were found to excrete massive amounts of D(+)-glyceric acid in their urine. This was verified by gas chromatography-mass spectrometry and the configuration determined by capillary gas chromatography of
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