Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
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Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.A guide to diagnosis and treatment of Leigh syndrome.Thiamine transporter-2 deficiency: outcome and treatment monitoringHigh-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.The genetics of Leigh syndrome and its implications for clinical practice and risk managementDiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Treatable Leigh-like encephalopathy presenting in adolescence.A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?The genetics and pathology of mitochondrial disease.Next-generation sequencing for mitochondrial disordersDefects of thiamine transport and metabolism.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Oxidative stress in inherited mitochondrial diseases.Leigh syndrome: One disorder, more than 75 monogenic causes.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Treatment of genetic defects of thiamine transport and metabolism.Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.Leigh syndrome: the genetic heterogeneity story continues.Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia 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.Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial CauseThe "Frail" Brain Blood Barrier in Neurodegenerative Diseases: Role of Early Disruption of Endothelial Cell-to-Cell Connections
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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
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Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@en
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@nl
type
label
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@en
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@nl
prefLabel
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@en
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@nl
P2093
P2860
P356
P1433
P1476
Exome sequencing reveals a nov ...... hildhood fatal Leigh syndrome.
@en
P2093
Abdelaziz Sefiani
Bart de Koning
Bianca van den Bosch
Eveline Jongen
Hans R Scholte
Hubert Smeets
Ilham Ratbi
Iris Boesten
Isabel de Angst
Jo van Oevelen
P2860
P304
P356
10.1093/BRAIN/AWT013
P407
P577
2013-02-18T00:00:00Z