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PubMed · 615481

Hyperglycinaemia without ketosis.

J Hyánek·R Pospisil·J Hoza·V Mechlová·J Novotná·J Kapras·O Podhradska·H Kopejtková·H Tauchmanová·H Viletová·V Kunová
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Abstract

When screening mentally backward children we detected a 5-year-old child with elevated urinary glycine excretion and a high blood glycine level. The report discusses the results of a clinical, metabolic and genetic examination of the child and the members of his family with reference to this rare metabolic disorder.

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Amino Acid Metabolism, Inborn ErrorsAmino AcidsChild, PreschoolGlycineHumansKetosisMaleCase ReportsComparative StudyJournal Article

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J Hyánek, R Pospisil, J Hoza, V Mechlová, J Novotná, J Kapras, O Podhradska, H Kopejtková, H Tauchmanová, H Viletová, V Kunová. 1977. Hyperglycinaemia without ketosis.. https://pubmed.ncbi.nlm.nih.gov/615481/

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