The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
about
Biochemical diagnosis of coenzyme q10 deficiency.Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3Genetics of coenzyme q10 deficiency.SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.Pediatric reference intervals for muscle coenzyme Q(10).
P2860
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P2860
The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
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2011年论文
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name
The use of muscle biopsy in th ...... erebellar atrophy in children.
@ast
The use of muscle biopsy in th ...... erebellar atrophy in children.
@en
type
label
The use of muscle biopsy in th ...... erebellar atrophy in children.
@ast
The use of muscle biopsy in th ...... erebellar atrophy in children.
@en
prefLabel
The use of muscle biopsy in th ...... erebellar atrophy in children.
@ast
The use of muscle biopsy in th ...... erebellar atrophy in children.
@en
P2093
P2860
P50
P1476
The use of muscle biopsy in th ...... cerebellar atrophy in children
@en
P2093
Alessandra Terracciano
Eugenio Mercuri
Florence Renaldo
Massimiliano Valeriani
Renata Boldrini
P2860
P304
P356
10.1016/J.EJPN.2011.07.016
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P577
2011-08-27T00:00:00Z