Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study Journal Articles

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abstract

Key Points PK deficiency manifests a broad spectrum in anemia severity that moderately improves after splenectomy. Close attention to monitoring for iron overload, gallstones, and other complications is recommended in all patients with PK deficiency.

authors

status

published

publication date

May 17, 2018

has subject area

1102 Cardiorespiratory Medicine and Haematology (FoR)
1103 Clinical Sciences (FoR)
1114 Paediatrics and Reproductive Medicine (FoR)
Adolescent (MeSH)
Adult (MeSH)
Anemia, Hemolytic, Congenital Nonspherocytic (MeSH)
Blood Transfusion (MeSH)
Child (MeSH)
Child, Preschool (MeSH)
Cholecystectomy (MeSH)
Combined Modality Therapy (MeSH)
Enzyme Activation (MeSH)
Female (MeSH)
Genetic Association Studies (MeSH)
Genotype (MeSH)
Humans (MeSH)
Immunology (Science Metrix)
Infant (MeSH)
Infant, Newborn (MeSH)
Male (MeSH)
Middle Aged (MeSH)
Mutation (MeSH)
Phenotype (MeSH)
Pyruvate Kinase (MeSH)
Pyruvate Metabolism, Inborn Errors (MeSH)
Splenectomy (MeSH)
Symptom Assessment (MeSH)
Treatment Outcome (MeSH)
Young Adult (MeSH)

published in

Blood Journal