Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)

2020 ◽  
Vol 25 (5) ◽  
pp. 144-147
Author(s):  
Isil Yazici Gencdal ◽  
Alp Dincer ◽  
Oguzhan Obuz ◽  
Zuhal Yapici
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

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

2007 ◽  
Vol 39 (4) ◽  
pp. 534-539 ◽  
Author(s):  
Gert C Scheper ◽  
Thom van der Klok ◽  
Rob J van Andel ◽  
Carola G M van Berkel ◽  
Marie Sissler ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Trna Synthetase ◽  
Synthetase Deficiency ◽  
Spinal Cord Involvement

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Study of the phenotype and genotype and their correlation

2013 ◽  
Vol 81 (S1) ◽  
pp. 47-47
Author(s):  
Eline M. Hamilton ◽  
Laura van Berge ◽  
Marjan E. Steenweg ◽  
Gert C. Scheper ◽  
Truus E. Abbink ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation: High Outcome Variation between Two Siblings

2014 ◽  
Vol 45 (03) ◽  
pp. 188-191 ◽  
Author(s):  
Elzbieta Jurkiewicz ◽  
Ekaterina Zakharova ◽  
Barbara Bobek-Billewicz ◽  
Anna Tylki-Szymanska
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient

2011 ◽  
Vol 33 (9) ◽  
pp. 713-717 ◽  
Author(s):  
Hanna Mierzewska ◽  
Marjo S. van der Knaap ◽  
Gert C. Scheper ◽  
Monika Bekiesinska-Figatowska ◽  
Elzbieta Szczepanik ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement ◽  
Polish Patient

scholarly journals Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

2013 ◽  
Vol 92 (5) ◽  
pp. 774-780 ◽  
Author(s):  
Ryan J. Taft ◽  
Adeline Vanderver ◽  
Richard J. Leventer ◽  
Stephen A. Damiani ◽  
Cas Simons ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Brain Stem ◽  
Spinal Cord Involvement
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