Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
about
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.Cerebral Manifestations of Mitochondrial Disorders.
P2860
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@ast
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@en
type
label
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@ast
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@en
prefLabel
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@ast
Expanding the Clinical and Mag ...... boring a Novel EARS2 Mutation.
@en
P2093
P2860
P50
P356
P1476
Expanding the Clinical and Mag ...... rboring a Novel EARS2 Mutation
@en
P2093
Alexandra Ploederl
Carlo Minetti
Claudio Bruno
Denise Cassandrini
Federica Trucco
Mariasavina Severino
Massimo Zeviani
Roberta Biancheri
P2860
P356
10.1007/8904_2015_434
P577
2015-04-09T00:00:00Z