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Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia
dc.contributor.authorKrieger, I.
dc.contributor.authorBooth, F.
dc.date.accessioned2019-01-15T20:30:19Z
dc.date.available2019-01-15T20:30:19Z
dc.date.issued1984-06
dc.identifier.citationKrieger, I.; Booth, F. (1984). "Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia." Journal of Inherited Metabolic Disease 7(2): 53-56.
dc.identifier.issn0141-8955
dc.identifier.issn1573-2665
dc.identifier.urihttps://hdl.handle.net/2027.42/147124
dc.description.abstractA patient with classical symptoms of non‐ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at −70 °C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.
dc.publisherKluwer Academic Publishers
dc.publisherWiley Periodicals, Inc.
dc.titleThreonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelMedicine (General)
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/147124/1/jimd0053.pdf
dc.identifier.doi10.1007/BF01805800
dc.identifier.sourceJournal of Inherited Metabolic Disease
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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