Prenatal diagnosis of non‐ketotic hyperglycinemia

作者: D. A. Applegarth , H. L. Levy , V. E. Shih , B. McGillivray , J. T. Wong

DOI: 10.1002/PD.1970060405

关键词: HyperglycinemiaObstetricsIn uteroGestational ageKetotic hyperglycinemiaAmniotic fluidInternal medicineEndocrinologyMedicinePrenatal diagnosis

摘要: We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and unaffected, using the glycine level glycine/ serine ratio amniotic fluid obtained 16 weeks gestational age. Although this method of hyperglycinemia has been effective our hands narrow differences between unaffected indicate need caution concerning its reliability.

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