A multicenter study on Leigh syndrome: disease course and predictors of survival. - Wikidata - awgldk - TriplyDB

A multicenter study on Leigh syndrome: disease course and predictors of survival.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

http://www.wikidata.org/entity/Q33614160

about

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).The genetics of Leigh syndrome and its implications for clinical practice and risk management Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview.Leigh map: A novel computational diagnostic resource for mitochondrial disease.Emerging aspects of treatment in mitochondrial disorders.Leigh syndrome: neuropathology and pathogenesis.Oxidative stress in inherited mitochondrial diseases.Leigh syndrome: One disorder, more than 75 monogenic causes.Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Ophthalmological manifestations in patients with Leigh syndrome.Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

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P2860

A multicenter study on Leigh syndrome: disease course and predictors of survival.

http://www.wikidata.org/entity/Q33614160

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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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

A multicenter study on Leigh syndrome: disease course and predictors of survival.

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A multicenter study on Leigh syndrome: disease course and predictors of survival.

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type

label

A multicenter study on Leigh syndrome: disease course and predictors of survival.

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A multicenter study on Leigh syndrome: disease course and predictors of survival.

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prefLabel

A multicenter study on Leigh syndrome: disease course and predictors of survival.

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A multicenter study on Leigh syndrome: disease course and predictors of survival.

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Orphanet Journal of Rare Diseases

P1476

A multicenter study on Leigh syndrome: disease course and predictors of survival.

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Elsebet Ostergaard

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Helena Pihko

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Irenaeus F M De Coo

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Isabell B De Angst

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Johanna Uusimaa

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Kalliopi Sofou

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Katariina Mankinen

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Linda De Meirleir

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Már Tulinius

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P2860

Subacute necrotizing encephalomyelopathy in an infant

Atypical presentations of leigh syndrome: a case series and review.

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings.

Acute infantile bilateral striatal necrosis: single-photon emission computed tomography (SPECT) imaging and review.

The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities.

Neuroimaging of mitochondrial disease.

Subacute necrotizing encephalomyelopathy. A review and a study of two families.

Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies.

Antenatal manifestations of mitochondrial respiratory chain deficiency.

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

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52

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10.1186/1750-1172-9-52

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9

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Laurence Bindoff

Charalampos Tzoulis

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2014-04-15T00:00:00Z

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4021638

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