Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
about
C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoARibose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathyReplacement of a Phenylalanine by a Tyrosine in the Active Site Confers Fructose-6-phosphate Aldolase Activity to the Transaldolase of Escherichia coli and Human OriginMolecular Identification of d-Ribulokinase in Budding Yeast and Mammals.Nephrological abnormalities in patients with transaldolase deficiency.Clinical and molecular characteristics of two transaldolase-deficient patients.Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.TAL deficiency, all roads lead to oxidative stress?Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolaseThe return of metabolism: biochemistry and physiology of the pentose phosphate pathwayFirst two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?Complex coordinated extracellular metabolism: Acid phosphatases activate diluted human leukocyte proteins to generate energy flow as NADPH from purine nucleotide ribose.Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteineMetabolomic screening of pre-diagnostic serum samples identifies association between α- and γ-tocopherols and glioblastoma risk.Novel association of early onset hepatocellular carcinoma with transaldolase deficiencyLiver glucose metabolism in humans.Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations.Investigation of metabolite alteration in dimethylnitrosamine-induced liver fibrosis by GC-MS.Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.Defective TALDO1 does not transform Fru(6)P; E4P to SH7P; GA3PDefective TALDO1 does not transform SH7P; GA3P to Fru(6)P; E4Psedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate <=> D-erythrose 4-phosphate + D-fructose 6-phosphateD-fructose 6-phosphate + D-erythrose 4-phosphate <=> sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate
P2860
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P2860
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
description
2001 nî lūn-bûn
@nan
2001 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Transaldolase deficiency: live ...... the pentose phosphate pathway
@ast
Transaldolase deficiency: live ...... the pentose phosphate pathway
@en
Transaldolase deficiency: live ...... the pentose phosphate pathway
@nl
type
label
Transaldolase deficiency: live ...... the pentose phosphate pathway
@ast
Transaldolase deficiency: live ...... the pentose phosphate pathway
@en
Transaldolase deficiency: live ...... the pentose phosphate pathway
@nl
prefLabel
Transaldolase deficiency: live ...... the pentose phosphate pathway
@ast
Transaldolase deficiency: live ...... the pentose phosphate pathway
@en
Transaldolase deficiency: live ...... the pentose phosphate pathway
@nl
P2093
P2860
P3181
P356
P1476
Transaldolase deficiency: live ...... the pentose phosphate pathway
@en
P2093
A C Douwes
E A Struys
G S Salomons
M S van der Knaap
N M Verhoeven
P2860
P304
P3181
P356
10.1086/320108
P407
P577
2001-03-27T00:00:00Z