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Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiencyInsulin and mTOR Pathway Regulate HDAC3-Mediated Deacetylation and Activation of PGK1Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiencyHematopoietic protein-1 regulates the actin membrane skeleton and membrane stability in murine erythrocytesEarly-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?Locus Reference Genomic sequences: an improved basis for describing human DNA variants.Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene.Comprehensive and quantitative proteomic analyses of zebrafish plasma reveals conserved protein profiles between genders and between zebrafish and human.Deciphering the Role of Emx1 in Neurogenesis: A Neuroproteomics ApproachA diagnostic algorithm for metabolic myopathiesNeuromuscular disorders of glycogen metabolism.Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.GRIM-19: A master regulator of cytokine induced tumor suppression, metastasis and energy metabolism.Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.Comparative proteomic analysis: SclR is importantly involved in carbohydrate metabolism in Aspergillus oryzae.Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report.
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
PGK deficiency
@ast
PGK deficiency
@en
PGK deficiency
@nl
type
label
PGK deficiency
@ast
PGK deficiency
@en
PGK deficiency
@nl
prefLabel
PGK deficiency
@ast
PGK deficiency
@en
PGK deficiency
@nl
P2860
P3181
P1476
PGK deficiency
@en
P2093
Ernest Beutler
P2860
P3181
P356
10.1111/J.1365-2141.2006.06351.X
P407
P577
2007-01-01T00:00:00Z