DARS mutations responsible for hypomyelination with brain stem and spinal cord involvement and leg spasticity : report of two cases and review of literature
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric departme...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 3 vom: 02. März, Seite 211-215
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| 1. Verfasser: |
Zhang, J
(VerfasserIn) |
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| Weitere Verfasser: |
Liu, M,
Zhou, L,
Zhang, Z B,
Wang, J M,
Jiang, Y W,
Wu, Y |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2018
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Case Reports
Journal Article
Review
Follow-up studies
Mutation
Posterior leukoencephalopathy sgndrome
Aspartate-tRNA Ligase
EC 6.1.1.12 |
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