Associated Papers
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Improving the laboratory diagnosis of pyruvate kinase deficiency.
Laas C et al.
British Journal of Haematology, 2021
Siblings with severe pyruvate kinase deficiency and a complex genotype.
Christensen RD et al.
American Journal of Medical Genetics. Part A, 2016
Causes of hemolysis in neonates with extreme hyperbilirubinemia.
Christensen RD et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2014
Adenosine triphosphate depletion of erythrocytes simulates the phenotype associated with pyruvate kinase deficiency and confers protection against Plasmodium falciparum in vitro.
Ayi K et al.
The Journal of Infectious Diseases, 2009
Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.
Percy MJ et al.
Blood Cells, Molecules & Diseases, 0
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