Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Neurometabolic disorders are often inherited and complex disorders that result from abnormalities of enzymes important for development and function of the nervous system. Recently, biallelic mutations in
NAXE
(
APOA1BP
) were found in patients with an infantile, lethal, neurometabolic disease. Here, exome sequencing was performed in two...
Alternative Titles
Full title
Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2316436926
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2316436926
Other Identifiers
ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-019-09640-2
