| Non-ketotic hyperglycinaemia: clinical and biochemical aspects. | |
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MedLine Citation:
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PMID: 3297708 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism characterized by elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The fundamental defect was found to lie in the glycine cleavage system. It is of significance that the major pathway for the catabolism of glycine was elucidated through the studies of hyperglycinaemia. The present knowledge about non-ketotic hyperglycinaemia is described in clinical and biochemical aspects. |
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Authors:
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K Tada; K Hayasaka |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: European journal of pediatrics Volume: 146 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1987 May |
Date Detail:
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Created Date: 1987-07-28 Completed Date: 1987-07-28 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 221-7 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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genetics*,
metabolism Amino Acid Oxidoreductases / metabolism* Brain / metabolism Carrier Proteins / metabolism* Diagnosis, Differential Electroencephalography Genes, Recessive* Glycine / metabolism* Humans Infant Infant, Newborn Ketosis / metabolism Liver / metabolism Multienzyme Complexes / metabolism* Transferases / metabolism* |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Multienzyme Complexes; 0/glycine cleavage system; 56-40-6/Glycine; EC 1.4.-/Amino Acid Oxidoreductases; EC 2.-/Transferases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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