Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
About this item
Full title
Author / Creator
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Purpose
Transaldolase deficiency is a recently described inborn error of pentose phosphate pathway. We conducted this study to further delineate the associated phenotype.
Methods and results
We report on 12 new cases representing six families with this metabolic defect that were observed over an 8 year span. None of these cases received th...
Alternative Titles
Full title
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1448209790
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1448209790
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-012-9577-8
