Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
About this item
Full title
Author / Creator
Larnaout, A , Amouri, R , Neji, S , Zouari, M , Kaabachi, N and Hentati, F
Publisher
Dordrecht: Dordrecht : Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Dordrecht : Springer Netherlands
Subjects
More information
Scope and Contents
Contents
l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes l-2-hydroxyglutarate dehydrogenase, which normally catalyses l-2-hydroxyglutarate to α-ketoglutarate. It is characterized by progressive mental deterioration, pyram...
Alternative Titles
Full title
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_69029034
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69029034
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-007-0576-0
