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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

✍ Scribed by 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

Book ID
109919541
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
294 KB
Volume
39
Category
Article
ISSN
1061-4036

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Mitochondrial aspartyl-tRNA synthetase d
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