Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spi...
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
About this item
Full title
Author / Creator
Scheper, Gert C , van der Klok, Thom , van Andel, Rob J , van Berkel, Carola G M , Sissler, Marie , Smet, Joél , Muravina, Tatjana I , Serkov, Sergey V , Uziel, Graziella , Bugiani, Marianna , Schiffmann, Raphael , Krägeloh-Mann, Ingeborg , Smeitink, Jan A M , Florentz, Catherine , Van Coster, Rudy , Pronk, Jan C and van der Knaap, Marjo S
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) has recently been defined based on a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy
1
. LBSL is an autosomal recessive disease, most often manifesting in early childhood. Affected individua...
Alternative Titles
Full title
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Authors, Artists and Contributors
Author / Creator
van der Klok, Thom
van Andel, Rob J
van Berkel, Carola G M
Sissler, Marie
Smet, Joél
Muravina, Tatjana I
Serkov, Sergey V
Uziel, Graziella
Bugiani, Marianna
Schiffmann, Raphael
Krägeloh-Mann, Ingeborg
Smeitink, Jan A M
Florentz, Catherine
Van Coster, Rudy
Pronk, Jan C
van der Knaap, Marjo S
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_00142528v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00142528v1
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng2013
