Treatable Leigh-like encephalopathy presenting in adolescence. - Wikidata - wikimedia - TriplyDB

Treatable Leigh-like encephalopathy presenting in adolescence.

Treatable Leigh-like encephalopathy presenting in adolescence.

http://www.wikidata.org/entity/Q37292864

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Thiamine transporter-2 deficiency: outcome and treatment monitoring The neuroimaging of Leigh syndrome: case series and review of the literature.Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Development of pharmacological strategies for mitochondrial disorders.Leigh map: A novel computational diagnostic resource for mitochondrial disease.Emerging aspects of treatment in mitochondrial disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Emergencies in motoneuron disease.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.

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Treatable Leigh-like encephalopathy presenting in adolescence.

http://www.wikidata.org/entity/Q37292864

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 07 October 2013

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Treatable Leigh-like encephalopathy presenting in adolescence.

@en

Treatable Leigh-like encephalopathy presenting in adolescence.

@nl

type

label

Treatable Leigh-like encephalopathy presenting in adolescence.

@en

Treatable Leigh-like encephalopathy presenting in adolescence.

@nl

prefLabel

Treatable Leigh-like encephalopathy presenting in adolescence.

@en

Treatable Leigh-like encephalopathy presenting in adolescence.

@nl

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BCR-2013-200838

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BMJ case reports

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Treatable Leigh-like encephalopathy presenting in adolescence.

@en

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Catherine J DeVile

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Elisa Fassone

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Lucinda J Carr

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Shamima Rahman

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W Kling Chong

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Yehani Wedatilake

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P2860

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

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200838

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scholarly article

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10.1136/BCR-2013-200838

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2013

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24099834

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