Literature DB >> 35496968

Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia.

Jin Han1, Jian Li1, Dong-Zhi Li1.   

Abstract

Entities:  

Year:  2021        PMID： 35496968      PMCID： PMC9001778          DOI： 10.1007/s12288-021-01505-x

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN： 0971-4502            Impact factor:   0.900


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  6 in total

1.  Hydrops fetalis associated with red cell pyruvate kinase deficiency.

Authors:  R C Hennekam; F A Beemer; B P Cats; G Jansen; G E Staal
Journal:  Genet Couns       Date:  1990

2.  Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

Authors:  L Baronciani; E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

3.  Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish.

Authors:  H Kanno; S K Ballas; S Miwa; H Fujii; H S Bowman
Journal:  Blood       Date:  1994-04-15       Impact factor: 22.113

4.  Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

Authors:  Teresa N Sparks; Billie R Lianoglou; Rebecca R Adami; Ilina D Pluym; Kerry Holliman; Jennifer Duffy; Sarah L Downum; Sachi Patel; Amanda Faubel; Nina M Boe; Nancy T Field; Aisling Murphy; Louise C Laurent; Jennifer Jolley; Cherry Uy; Anne M Slavotinek; Patrick Devine; Ugur Hodoglugil; Jessica Van Ziffle; Stephan J Sanders; Tippi C MacKenzie; Mary E Norton
Journal:  N Engl J Med       Date:  2020-10-07       Impact factor: 91.245

5.  Fetal anaemia due to pyruvate kinase deficiency.

Authors:  F Gilsanz; M A Vega; E Gómez-Castillo; J A Ruiz-Balda; F Omeñaca
Journal:  Arch Dis Child       Date:  1993-11       Impact factor: 3.791

6.  Prevalence of pyruvate kinase deficiency: A systematic literature review.

Authors:  Matthew H Secrest; Mike Storm; Courtney Carrington; Deborah Casso; Keely Gilroy; Leanne Pladson; Audra N Boscoe
Journal:  Eur J Haematol       Date:  2020-06-23       Impact factor: 2.997
  6 in total

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