Neuroferritinopathy: a new inborn error of iron metabolism
Neuroferritinopathy: a new inborn error of iron metabolism
About this item
Full title
Author / Creator
Publisher
Berlin/Heidelberg: Springer-Verlag
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer-Verlag
Subjects
More information
Scope and Contents
Contents
Neuroferritinopathy is an autosomal dominant progressive movement disorder which occurs due to mutations in the ferritin light chain gene (
FTL1
). It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 a...
Alternative Titles
Full title
Neuroferritinopathy: a new inborn error of iron metabolism
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4038507
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4038507
Other Identifiers
ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-011-0310-9
