Literature DB >> 27595284

Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.

M Kim1,2, J Park1,2, J Lee1,2, W Jang1,2, H Chae1,2, H Choi2, J Kim2, A Kwon2, J-W Lee3, B Cho3, Y Kim1,2, N-G Chung3.   

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Year:  2016        PMID： 27595284     DOI： 10.1038/bmt.2016.218

Source DB:  PubMed          Journal:  Bone Marrow Transplant        ISSN： 0268-3369            Impact factor:   5.483


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  15 in total

1.  Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.

Authors:  E Beutler; T Gelbart
Journal:  Blood       Date:  2000-06-01       Impact factor: 22.113

2.  Red cell pyruvate kinase deficiency. The effect of splenectomy.

Authors:  T F Necheles; H E Finkel; R G Sheehan; D M Allen
Journal:  Arch Intern Med       Date:  1966-07

3.  Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.

Authors:  Marwa Abu El Haija; You-Wen Qian; Akila Muthukumar
Journal:  Pediatr Blood Cancer       Date:  2014-01-30       Impact factor: 3.167

4.  Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency.

Authors:  V S Tanphaichitr; V Suvatte; S Issaragrisil; C Mahasandana; G Veerakul; V Chongkolwatana; W Waiyawuth; H Ideguchi
Journal:  Bone Marrow Transplant       Date:  2000-09       Impact factor: 5.483

5.  Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression.

Authors:  Amalia Diez; Florinda Gilsanz; Joaquin Martinez; Susana Pérez-Benavente; Néstor W Meza; José M Bautista
Journal:  Blood       Date:  2005-05-03       Impact factor: 22.113

6.  Nonmyeloablative HLA-matched sibling allogeneic hematopoietic stem cell transplantation for severe sickle cell phenotype.

Authors:  Matthew M Hsieh; Courtney D Fitzhugh; R Patrick Weitzel; Mary E Link; Wynona A Coles; Xiongce Zhao; Griffin P Rodgers; Jonathan D Powell; John F Tisdale
Journal:  JAMA       Date:  2014-07-02       Impact factor: 56.272

7.  Next-generation diagnostics and disease-gene discovery with the Exomiser.

Authors:  Damian Smedley; Julius O B Jacobsen; Marten Jäger; Sebastian Köhler; Manuel Holtgrewe; Max Schubach; Enrico Siragusa; Tomasz Zemojtel; Orion J Buske; Nicole L Washington; William P Bone; Melissa A Haendel; Peter N Robinson
Journal:  Nat Protoc       Date:  2015-11-12       Impact factor: 13.491

Review 8.  Red blood cell PK deficiency: An update of PK-LR gene mutation database.

Authors:  Giulia Canu; Maria De Bonis; Angelo Minucci; Ettore Capoluongo
Journal:  Blood Cells Mol Dis       Date:  2016-01-12       Impact factor: 3.039

Review 9.  Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Authors:  Yuan Xue; Arunkanth Ankala; William R Wilcox; Madhuri R Hegde
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

Review 10.  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
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  3 in total

1.  Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

Authors:  Stephanie van Straaten; Marc Bierings; Paola Bianchi; Kensuke Akiyoshi; Hitoshi Kanno; Isabel Badell Serra; Jing Chen; Xiaohang Huang; Eduard van Beers; Supachai Ekwattanakit; Tayfun Güngör; Wijnanda Adriana Kors; Frans Smiers; Reinier Raymakers; Lucrecia Yanez; Julian Sevilla; Wouter van Solinge; Jose Carlos Segovia; Richard van Wijk
Journal:  Haematologica       Date:  2017-12-14       Impact factor: 9.941

Review 2.  Diagnostic approaches for inherited hemolytic anemia in the genetic era.

Authors:  Yonggoo Kim; Joonhong Park; Myungshin Kim
Journal:  Blood Res       Date:  2017-06-22

3.  Exome sequencing for diagnosis of congenital hemolytic anemia.

Authors:  Lamisse Mansour-Hendili; Abdelrazak Aissat; Bouchra Badaoui; Mehdi Sakka; Christine Gameiro; Valérie Ortonne; Orianne Wagner-Ballon; Serge Pissard; Véronique Picard; Khaldoun Ghazal; Michel Bahuau; Corinne Guitton; Ziad Mansour; Mylène Duplan; Arnaud Petit; Nathalie Costedoat-Chalumeau; Marc Michel; Pablo Bartolucci; Stéphane Moutereau; Benoît Funalot; Frédéric Galactéros
Journal:  Orphanet J Rare Dis       Date:  2020-07-08       Impact factor: 4.123
  3 in total

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