Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoac...
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
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Full title
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Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
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Publisher
Dordrecht: Springer Netherlands
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Scope and Contents
Contents
Succinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbol
OXCT1
) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents a...
Alternative Titles
Full title
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
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Record Identifier
TN_cdi_proquest_miscellaneous_1917963930
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1917963930
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-017-0065-z
