Pyruvate kinase deficiency: the genotype-phenotype association.
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Advancing Biological Understanding and Therapeutics Discovery with Small-Molecule ProbesErythrocyte pyruvate kinase deficiency: 2015 status reportMolecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center.Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogsRegulation of pyruvate metabolism and human diseaseDiagnostic approaches for inherited hemolytic anemia in the genetic eraPyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.Modulation of allostery of pyruvate kinase by shifting of an ensemble of microstates.Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.A case of severe pyruvate kinase deficiency in a primigravida: successful outcome.Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt.Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.Recommendations regarding splenectomy in hereditary hemolytic anemias.Pyruvate kinase deficiency as a cause of extreme hyperbilirubinemia in neonates from a polygamist community.Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.Analysis of copy number variations in Holstein cows identify potential mechanisms contributing to differences in residual feed intake.Diagnosis of Pyruvate Kinase Deficiency.Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.Novel mutations associated with pyruvate kinase deficiency in Brazil.Siblings with severe pyruvate kinase deficiency and a complex genotype.Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.Cord blood transplantation in a young child with pyruvate kinase deficiency.Squeezing for Life - Properties of Red Blood Cell Deformability.
P2860
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P2860
Pyruvate kinase deficiency: the genotype-phenotype association.
description
2007 nî lūn-bûn
@nan
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
2007年论文
@zh
2007年论文
@zh-cn
name
Pyruvate kinase deficiency: the genotype-phenotype association.
@ast
Pyruvate kinase deficiency: the genotype-phenotype association.
@en
type
label
Pyruvate kinase deficiency: the genotype-phenotype association.
@ast
Pyruvate kinase deficiency: the genotype-phenotype association.
@en
prefLabel
Pyruvate kinase deficiency: the genotype-phenotype association.
@ast
Pyruvate kinase deficiency: the genotype-phenotype association.
@en
P50
P1433
P1476
Pyruvate kinase deficiency: the genotype-phenotype association
@en
P2093
Alberto Zanella
Giovanna Valentini
P304
P356
10.1016/J.BLRE.2007.01.001
P577
2007-03-13T00:00:00Z