Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia-Reference-Cited by-同舟云学术

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia

Published:2014-07-17 Issue:3 Volume:124 Page:437-440
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Gagne Katelyn E.¹,Ghazvinian Roxanne²,Yuan Daniel²,Zon Rebecca L.¹,Storm Kelsie³,Mazur-Popinska Magdalena⁴,Andolina Laura⁵,Bubala Halina⁶,Golebiowska Sydonia⁷,Higman Meghan A.⁵,Kalwak Krzysztof⁴,Kurre Peter³,Matysiak Michal⁷,Niewiadomska Edyta⁷,Pels Salley⁸,Petruzzi Mary Jane⁵,Pobudejska-Pieniazek Aneta⁶,Szczepanski Tomasz⁶,Fleming Mark D.⁹,Gazda Hanna T.²¹⁰¹¹,Agarwal Suneet¹¹⁰¹²

Affiliation:

1. Division of Hematology/Oncology, Stem Cell Program, and

2. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA;

3. Papé Family Pediatric Research Institute, Oregon Stem Cell Center, Oregon Health & Science University, Portland, OR;

4. Department of Pediatric Hematology, Oncology and Transplantation, Wroclaw Medical University, Wroclaw, Poland;

5. Women and Children's Hospital of Buffalo, Buffalo, NY;

6. Department of Pediatric Hematology/Oncology, Medical University of Silesia, Zabrze, Poland;

7. Department of Pediatric Hematology/Oncology, Medical University of Warsaw, Poland;

8. Pediatrics, Yale University School of Medicine, New Haven, CT;

9. Department of Pathology, Boston Children's Hospital, Boston, MA;

10. Harvard Medical School, Boston, MA;

11. Broad Institute, Cambridge, MA; and

12. Harvard Stem Cell Institute, Cambridge, MA

Abstract

Key Points PS can be overlooked in the differential diagnosis of children with severe congenital anemia. mtDNA deletion testing should be included in the genetic evaluation of patients with congenital anemia of unclear etiology.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/3/437/1465053/437.pdf

Reference21 articles.

1. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction.;Pearson;J Pediatr,1979

2. Mitochondrial DNA deletion in Pearson’s marrow/pancreas syndrome.;Rotig;Lancet,1989

3. Pearson’s marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.;Rötig;J Clin Invest,1990

4. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.;Rötig;Hum Mol Genet,1995

5. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.;Sadikovic;PLoS ONE,2010

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