Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome
about
Congenital neutropenia: diagnosis, molecular bases and patient management.Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.Congenic mice confirm that collagen X is required for proper hematopoietic development.Altered endochondral ossification in collagen X mouse models leads to impaired immune responsesDraft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.Shwachman-Diamond syndrome (SDS) in a preterm neonate.Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation.Shwachman-Diamond syndrome presenting as hypoglycemia.Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.Delayed diagnosis of Shwachman diamond syndrome with short telomeres and a review of cases in Asia.
P2860
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P2860
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@ast
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en-gb
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@nl
type
label
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@ast
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en-gb
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@nl
prefLabel
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@ast
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en-gb
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@nl
P2093
P921
P356
P1433
P1476
Congenital aplastic anemia cau ...... of Shwachman-Diamond syndrome
@en
P2093
Eline Nannenberg
Marielle Alders
Raoul C M Hennekam
Robbert Bredius
P304
P356
10.1542/PEDS.2003-0651-F
P407
P577
2004-09-01T00:00:00Z