Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
About this item
Full title
Author / Creator
Publisher
Boston, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Boston, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
This report describes two neurologically devastated infants who died as newborns from congenital glutamine synthetase deficiency and profoundly low levels of glutamine in bodily fluids and the circulation. Homozygous mutations in glutamine synthetase, which plays a major role in ammonia detoxification, interorgan nitrogen flux, acid–base homeostasi...
Alternative Titles
Full title
Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68758569
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68758569
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa050456
