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Thiamine transporter-2 deficiency: outcome and treatment monitoring

Thiamine transporter-2 deficiency: outcome and treatment monitoring

http://www.wikidata.org/entity/Q30832915

about

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Leigh syndrome: One disorder, more than 75 monogenic causes.Treatment of genetic defects of thiamine transport and metabolism.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Dietary reference values for thiamin Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Thiamine and dystonia 16.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

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P2860

Thiamine transporter-2 deficiency: outcome and treatment monitoring

http://www.wikidata.org/entity/Q30832915

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

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name

Thiamine transporter-2 deficiency: outcome and treatment monitoring

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

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type

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

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prefLabel

Thiamine transporter-2 deficiency: outcome and treatment monitoring

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Thiamine transporter-2 deficiency: outcome and treatment monitoring

@en

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P1433

Orphanet Journal of Rare Diseases

P1476

Thiamine transporter-2 deficiency: outcome and treatment monitoring

@en

P2093

Marta Molero

http://www.w3.org/2001/XMLSchema#string

Mónica Rebollo

http://www.w3.org/2001/XMLSchema#string

Pilar Rodríguez-Pombo

http://www.w3.org/2001/XMLSchema#string

P2860

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

The emerging paradigm of network medicine in the study of human disease

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

Progressive striatal necrosis associated with anti-NMDA receptor antibodies.

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.

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

Modelling genotype-phenotype relationships and human disease with genetic interaction networks.

Acute necrotizing encephalopathy in 3 brothers.

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92

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scholarly article

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10.1186/1750-1172-9-92

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9

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Mercedes Serrano

BELEN PEREZ DUEÑAS

Alfonso Oyarzabal

Darío Ortigoza-Escobar

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2014-06-23T00:00:00Z

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263397529

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1046807168

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24957181

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4099387

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