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Leukoencephalopathy with brain stem and spinal cord involvement (and high lactate): raising the bar for diagnosis

✍ Scribed by Moore, S. Arthur; Kumar, Neeraj; Gavrilova, Ralitza H.


Book ID
118784442
Publisher
Springer
Year
2012
Tongue
English
Weight
280 KB
Volume
259
Category
Article
ISSN
0340-5354

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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