Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
about
Ribosomopathies: how a common root can cause a tree of pathologiesThe genomics of inherited bone marrow failure: from mechanism to the clinic.Genomic characterization of the inherited bone marrow failure syndromes.Inherited bone marrow failure syndromes in adolescents and young adults.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Neonatal manifestations of inherited bone marrow failure syndromes.The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.Pearson syndrome in a Diamond-Blackfan anemia cohortWhole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Marrow failure: a window into ribosome biologyTelomere length in inherited bone marrow failure syndromesDiamond Blackfan anemia: a model for the translational approach to understanding human disease.Moonlighting adenosine deaminase: a target protein for drug development.Diagnosis and management of congenital dyserythropoietic anemias.Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.Inherited bone marrow failure syndromes: considerations pre- and posttransplant.Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.Inborn errors of purine metabolism: clinical update and therapies.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia
P2860
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P2860
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@ast
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@en
type
label
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@ast
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@en
prefLabel
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@ast
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@en
P2093
P2860
P356
P1476
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.
@en
P2093
Bertil Glader
Blanche P Alter
Carolyn Wong
Christian P Kratz
John H Fargo
Karen Backer
Neelam Giri
P2860
P304
P356
10.1111/BJH.12167
P407
P577
2012-12-17T00:00:00Z