Molecular and clinical heterogeneity in pyruvate kinase deficiency in India
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference25 articles.
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2. Pyruvate kinase deficiency;Zanella;Haematologica,2007
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4. The allosteric regulation of pyruvate kinase by fructose-1,6-bisphosphate;Jurica;Structure,1998
5. cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384-Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia;Kanno;Proc. Natl. Acad. Sci. U. S. A.,1991
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1. Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation;Frontiers in Genetics;2023-08-21
2. Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency;Molecular Genetics & Genomic Medicine;2023-07-19
3. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population;Annals of Hematology;2023-03-09
4. Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency;Frontiers in Pediatrics;2022-12-01
5. Iron Deficiency Anemia: Efficacy and Limitations of Nutritional and Comprehensive Mitigation Strategies;Nutrients;2022-07-20
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