Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway
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Thiamine transporter-2 deficiency: outcome and treatment monitoringNeurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.Identification of vitamin B1 metabolism as a tumor-specific radiosensitizing pathway using a high-throughput colony formation screenThiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.Next-generation sequencing for mitochondrial disordersDefects of thiamine transport and metabolism.The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.RNA SEQ Analysis Indicates that the AE3 Cl-/HCO3- Exchanger Contributes to Active Transport-Mediated CO2 Disposal in Heart.Leigh syndrome: One disorder, more than 75 monogenic causes.Treatment of genetic defects of thiamine transport and metabolism.Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.A framework for exhaustively mapping functional missense variants.Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsThe adaptive regulation of thiamine pyrophosphokinase-1 facilitates malignant growth during supplemental thiamine conditions
P2860
Q30832915-CE83F72D-DD0E-418E-BC4F-8FC3149A0105Q31076462-6929422B-493E-463F-BFE9-940753898554Q33902952-F1E56EDF-6502-46CA-BFEA-6B5885506B91Q35580950-D863EB1A-064C-4934-BCC7-0267282B1325Q37434098-F50A1F8B-0331-416C-91F8-4576648684CCQ37686243-943A4206-FE9F-4308-A20C-87A335DF6F0CQ38208766-8FC655C1-1AB2-4D72-AA2B-5EE058DDB280Q38294904-158DF080-8B7E-4746-897A-60CC9CDEE9D7Q38357534-62B92821-A29F-4B77-A2D6-A0553208C5FEQ38430376-EBB4F350-17F2-44FF-BCF1-18DFD75498D4Q38617364-8D1591E4-3831-4899-AD09-851FFC755CE1Q38837368-940895C2-DCD5-4F4D-8701-9A327B92AE58Q41489347-554C5C1C-1095-4D03-B022-0E1CADCFEB8FQ42486103-7FEC403F-5262-434E-BE01-489CE0B26C2BQ44364030-55E30C97-460F-4C85-8EA2-0A1B3257E05EQ46268668-1D14E415-3C88-417F-9A0E-EDB8451B9BC7Q47139491-C31D4359-CD5C-40D1-B58D-D15DBA68412EQ47879309-9B226666-DB3A-4C7C-935F-784F15D9E53BQ50211802-E16B764C-3AA4-48A0-8690-0B3AD165E6D0Q57251783-5B7E1E41-E272-455A-A5E0-0A6CD8D51C92Q59128448-5F3F65CB-BCBA-4980-8BF4-0E6D7DFEA1DF
P2860
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@ast
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@en
type
label
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@ast
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@en
prefLabel
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@ast
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@en
P2093
P2860
P1476
Thiamine pyrophosphokinase def ...... the pyruvate oxidation pathway
@en
P2093
Boris Rolinski
Franz A Zimmermann
Johannes Koch
Kurt Schlachter
Peter Freisinger
Thomas Scheffner
Tobias B Haack
Uwe Ahting
Wolfgang Sperl
P2860
P304
P356
10.1016/J.AJHG.2011.11.007
P407
P577
2011-12-01T00:00:00Z