Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
about
The evolution and treatment of Korsakoff's syndrome: out of sight, out of mind?Recent advances in transport of water-soluble vitamins in organs of the digestive system: a focus on the colon and the pancreasSLC transporters as therapeutic targets: emerging opportunitiesNovel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia EncephalopathyThiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.Thiamine transporter-2 deficiency: outcome and treatment monitoringInfantile encephalitic beriberi: magnetic resonance imaging findings.Intestinal absorption of water-soluble vitamins in health and diseaseA wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathyImpaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeChronic alcohol consumption and its effect on nodes of frontocerebellar and limbic circuitry: comparison of effects in France and the United States.Variation in SLC19A3 and Protection From Microvascular Damage in Type 1 Diabetes.High-dose thiamine improves the symptoms of fibromyalgiaHigh-dose thiamine improves the symptoms of Friedreich's ataxiaHigh dose thiamine improves fatigue in multiple sclerosis.High-dose thiamine as initial treatment for Parkinson's diseaseTreatable 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?Evidence for genetic susceptibility to the alcohol dependence syndrome from the thiamine transporter 2 gene solute carrier SLC19A3.Brain and behavioral pathology in an animal model of Wernicke's encephalopathy and Wernicke-Korsakoff Syndrome.Defects of thiamine transport and metabolism.Wernicke encephalopathy in children and adolescents.Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.Treatment of genetic defects of thiamine transport and metabolism.Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.An open-label pilot study with high-dose thiamine in Parkinson's disease.Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.Thiamine and spinocerebellar ataxia type 2.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.Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Dietary reference values for thiaminBiotin Thiamin Responsive Basal Ganglia Disease in Siblings.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
P2860
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P2860
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@en
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@nl
type
label
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@en
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@nl
prefLabel
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@en
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@nl
P2093
P356
P1476
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.
@en
P2093
Akashi Togawa
Hiroaki Miyajima
Hitoshi Suzuki
Kenichi Yoshida
Kentaro Shirakawa
Satoshi Kono
P304
P356
10.1056/NEJMC0809100
P407
P577
2009-04-01T00:00:00Z