טוען...
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a m...
שמור ב:
| הוצא לאור ב: | BMJ Case Rep |
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| Main Authors: | , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BMJ Publishing Group
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6340551/ https://ncbi.nlm.nih.gov/pubmed/30635318 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227755 |
| תגים: |
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