Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a progressive disorder associated with deficiency of mitochondrial aspartyl-tRNA synthetase, a homodimer encoded by the gene DARS2. There is a wide range in age of onset of symptoms, typically from childho...

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Detalles Bibliográficos
Autores principales: Ngo, Julie, Prokop, Jeremy W., Umfleet, Jason, Seaver, Laurie H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155743/
https://www.ncbi.nlm.nih.gov/pubmed/34104671
http://dx.doi.org/10.1177/2329048X211019173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155743/
https://www.ncbi.nlm.nih.gov/pubmed/34104671
http://dx.doi.org/10.1177/2329048X211019173

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