Literature DB >> 21784452

Six children with pyruvate kinase deficiency from one small town: molecular characterization of the PK-LR gene.

Robert D Christensen1, Hassan M Yaish, Charlotte B Johnson, Paola Bianchi, Alberto Zanella.   

Abstract

We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.
Copyright © 2011 Mosby, Inc. All rights reserved.

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Year:  2011        PMID： 21784452     DOI： 10.1016/j.jpeds.2011.05.043

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  5 in total

1.  Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs.

Authors:  G Inal Gultekin; K Raj; P Foureman; S Lehman; K Manhart; O Abdulmalik; U Giger
Journal:  J Vet Intern Med       Date:  2012 Jul-Aug       Impact factor: 3.333

Review 2.  Erythrocyte pyruvate kinase deficiency: 2015 status report.

Authors:  Rachael F Grace; Alberto Zanella; Ellis J Neufeld; D Holmes Morton; Stefan Eber; Hassan Yaish; Bertil Glader
Journal:  Am J Hematol       Date:  2015-08-14       Impact factor: 10.047

3.  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

4.  Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study.

Authors:  Ye Jee Shim; Hye Lim Jung; Hee Young Shin; Hyoung Jin Kang; Jung Yoon Choi; Jeong Ok Hah; Jae Min Lee; Young Tak Lim; Eu Jeen Yang; Hee Jo Baek; Hyoung Soo Choi; Keon Hee Yoo; Jun Eun Park; Seongkoo Kim; Ji Yoon Kim; Eun Sil Park; Ho Joon Im; Hee Won Chueh; Soon Ki Kim; Jae Hee Lee; Eun Sun Yoo; Hyeon Jin Park; Jun Ah Lee; Meerim Park; Hyun Sik Kang; Ji Kyoung Park; Na Hee Lee; Sang Kyu Park; Young Ho Lee; Seong Wook Lee; Eun Jin Choi; Seom Gim Kong
Journal:  J Korean Med Sci       Date:  2020-08-24       Impact factor: 2.153

Review 5.  Molecular heterogeneity of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941
  5 in total

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