Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

OBJECTIVE: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive disease. Affected individuals are invariably compound heterozygous for two mutations in DARS2. No reports of LBSL patients have been published in the mainland of Chin...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 50(2012), 1 vom: 01. Jan., Seite 50-5
1. Verfasser: Huang, Qiong-hui (VerfasserIn)
Weitere Verfasser: Xiao, Jiang-xi, Wang, Jing-min, Jiang, Yu-wu, Wu, Ye
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2012
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Research Support, U.S. Gov't, Non-P.H.S. Lactic Acid 33X04XA5AT Aspartate-tRNA Ligase EC 6.1.1.12 DARS2 protein, human