Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12288-021-01505-x.pdf
Reference6 articles.
1. Secrest MH, Storm M, Carrington C, Casso D, Gilroy K, Pladson L, Boscoe AN (2020) Prevalence of pyruvate kinase deficiency: a systematic literature review. Eur J Haematol 105:173–184
2. Kanno H, Ballas SK, Miwa S, Fujii H, Bowman HS (1994) Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. Blood 83:2311–2316
3. Baronciani L, Beutler E (1993) Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Natl Acad Sci USA 90:4324–4327
4. Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME; University of California Fetal–Maternal Consortium; University of California, San Francisco Center for Maternal–Fetal Precision Medicine (2020) Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med 383:1746–1756
5. Hennekam RC, Beemer FA, Cats BP, Jansen G, Staal GE (1990) Hydrops fetalis associated with red cell pyruvate kinase deficiency. Genet Couns 1:75–79
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