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adipic acid/ataxia

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NakalaMajaribio ya klinikiHati miliki
1 matokeo

[Alpha-amino adipic aciduria: a rare psychomotor syndrome].

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Ingia / Ingia
A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to
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