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1.
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
Blood
; 124(18): 2867-71, 2014 Oct 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-25193871
2.
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
Blood
; 122(1): 112-23, 2013 Jul 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-23553769
3.
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.
J Inherit Metab Dis
; 36(2): 263-70, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22718273
4.
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.
Haematologica
; 97(9): 1320-8, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22371174
5.
Sustained response to intrathecal rituximab in EBV associated Post-transplant lymphoproliferative disease confined to the central nervous system following haematopoietic stem cell transplant.
Pediatr Blood Cancer
; 58(3): 459-61, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21584931
6.
Pseudohyperkalaemia associated with leukaemic cell lysis during pneumatic tube transport of blood samples.
Pediatr Nephrol
; 27(6): 1029-31, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22366875
7.
Hemophagocytosis by leukemic megakaryoblasts in acute myeloid leukemia (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL1.
J Pediatr Hematol Oncol
; 34(7): 576-80, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22469944
8.
Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.
J Inherit Metab Dis
; 33 Suppl 3: S171-3, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20393800
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