✦ LIBER ✦

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

✍ Scribed by Eline M. Hamilton, Laura van Berge…

Book ID: 120904722
Publisher: Bohn Stafleu van Loghum
Year: 2013
Tongue: Dutch
Weight: 50 KB
Volume: 81
Category: Article
ISSN: 0376-7442
DOI: 10.1007/s12456-013-0047-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Leukoencephalopathy with brain stem and

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

✍ Hanna Mierzewska; Marjo S. van der Knaap; Gert C. Scheper; Monika Bekiesinska-Fi 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 574 KB

O22 – 1585 New insights into the spectru

O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)

✍ Hamilton, EM; van Berge, L; Steenweg, ME; Linnankivi, T; Uziel, G; Krägeloh-Mann 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 65 KB

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

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

INV29 Mitochondrial aspartyl-tRNA synthe

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

✍ M.S. van der Knaap; J.C. Pronk; R. Van Coster; C. Florentz; J. Smet; M. Sissler; 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 47 KB

Leukoencephalopathy with brain stem and

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

✍ Moore, S. Arthur; Kumar, Neeraj; Gavrilova, Ralitza H. 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 280 KB