Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Item
http://www.wikidata.org/entity/Q34373758
Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesDeep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy MetabolismMPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.Mitochondrial dysfunction in liver failure requiring transplantation.MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).Patient-derived mouse xenografts from pediatric liver cancer predict tumor recurrence and advise clinical management.First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
P2860

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Item
http://www.wikidata.org/entity/Q34373758
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Individual exome analysis in d ...... re of indeterminate aetiology.
@ast
Individual exome analysis in d ...... re of indeterminate aetiology.
@en
Individual exome analysis in d ...... re of indeterminate aetiology.
@nl
type
label
Individual exome analysis in d ...... re of indeterminate aetiology.
@ast
Individual exome analysis in d ...... re of indeterminate aetiology.
@en
Individual exome analysis in d ...... re of indeterminate aetiology.
@nl
prefLabel
Individual exome analysis in d ...... re of indeterminate aetiology.
@ast
Individual exome analysis in d ...... re of indeterminate aetiology.
@en
Individual exome analysis in d ...... re of indeterminate aetiology.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P932
P356
P1433
P1476
Individual exome analysis in d ...... re of indeterminate aetiology.
@en
P2093
P2860
P304
P31
P356
10.1016/J.JHEP.2014.06.038
P433
P478
P577
P698
P932