Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History StudyRachael F. Grace, Wilma Barcellini, Nina Kollmar et al.|Blood|2018Cited by 165
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiencyPaola Bianchi, Rachael F. Grace, Elisa Fermo et al.|American Journal of Hematology|2020Cited by 66
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History StudyEduard J. van Beers, Rachael F. Grace, Stephanie van Straaten et al.|Haematologica|2018Cited by 61
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiencyHanny Al‐Samkari, Rachael F. Grace, Kathryn Addonizio et al.|British Journal of Haematology|2020Cited by 22
Pyruvate kinase deficiency in childrenSatheesh Chonat, Rachael F. Grace, Stefan Eber et al.|Pediatric Blood & Cancer|2021Cited by 14