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- W2025055043 abstract "Abstract A 10‐year‐old girl, one of three affected sisters, with non‐ketotic hyperglycinaemia is described. In contrast to other reported cases, the course of the disorder was comparatively mild in this family. The only clinical signs were mental retardation and abnormalities in the EEG; blood glycine levels were 2–3 times normal. In the propositus, the formation of 14 CO 2 from glycine‐1‐ 14 C and of FH 4 14 CH 2 OH from glycine‐2‐ 14 C were impaired, shown by the decreased 14 CO 2 content of expired air and diminished labelling of carbon 3 of serine. However, the biochemical defect was no less than that seen in patients with much more severe clinical effects." @default.
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- W2025055043 date "1978-06-05" @default.
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- W2025055043 title "Non‐ketotic hyperglycinaemia in a family with an unusual phenotype" @default.
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- W2025055043 doi "https://doi.org/10.1007/bf01805677" @default.
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