Reduced carbohydrate intake in citrin-deficient subjects
Reduced carbohydrate intake in citrin-deficient subjects
About this item
Full title
Author / Creator
Saheki, T. , Kobayashi, K. , Terashi, M. , Ohura, T. , Yanagawa, Y. , Okano, Y. , Hattori, T. , Fujimoto, H. , Mutoh, K. , Kizaki, Z. and Inui, A.
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Summary
Citrin is the liver-type aspartate-glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene
SLC25A13
) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). Clinically, CTLN2 is characte...
Alternative Titles
Full title
Reduced carbohydrate intake in citrin-deficient subjects
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69230311
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69230311
Other Identifiers
ISSN
0141-8955,1573-2665
E-ISSN
1573-2665
DOI
10.1007/s10545-008-0752-x
