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INV29 Mitochondrial aspartyl-tRNA synthetase deficiency causes “Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation”

✍ Scribed by M.S. van der Knaap; J.C. Pronk; R. Van Coster; C. Florentz; J. Smet; M. Sissler; T. van der Klok; G.C. Scheper

Book ID
114359347
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
47 KB
Volume
11
Category
Article
ISSN
1090-3798

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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
✍ Scheper, Gert C; van der Klok, Thom; van Andel, Rob J; van Berkel, Carola G M; S 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 294 KB

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 manife