A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia J., Klaassen, Robert J., Chakraborty, Pranesh, Geraghty, Michael T., Major-Cook, Nathalie, Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Fleming, Mark D., Wynn, Robert F.
Published in Blood (04.07.2013)
Published in Blood (04.07.2013)
Get full text
Journal Article
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy
AMEER SAIF, Muhammad, BIGGER, Brian W, BROOKES, Karen E, MERCER, Jean, TYLEE, Karen L, CHURCH, Heather J, BONNEY, Denise K, JONES, Simon, ED WRAITH, J, WYNN, Robert F
Published in Haematologica (Roma) (01.09.2012)
Published in Haematologica (Roma) (01.09.2012)
Get full text
Journal Article
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Chakraborty, Pranesh K., Schmitz-Abe, Klaus, Kennedy, Erin K., Mamady, Hapsatou, Naas, Turaya, Durie, Danielle, Campagna, Dean R., Lau, Ashley, Sendamarai, Anoop K., Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia-Jane, Klaassen, Robert J., Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Wynn, Robert F., Laxer, Ronald M., Minniti, Caterina P., Moppett, John, Bordon, Victoria, Geraghty, Michael, Joyce, Paul B.M., Markianos, Kyriacos, Rudner, Adam D., Holcik, Martin, Fleming, Mark D.
Published in Blood (30.10.2014)
Published in Blood (30.10.2014)
Get full text
Journal Article
Sustained response to intrathecal rituximab in EBV associated Post-transplant lymphoproliferative disease confined to the central nervous system following haematopoietic stem cell transplant
Bonney, Denise K., Htwe, Ei E., Turner, Andrew, Kelsey, Anna, Shabani, Abdu, Hughes, Stephen, Hughes, Imelda, Wynn, Robert F.
Published in Pediatric blood & cancer (01.03.2012)
Published in Pediatric blood & cancer (01.03.2012)
Get full text
Journal Article
Management of mucopolysaccharidosis type IH (Hurler’s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution’s experience
Wiseman, Daniel H., Mercer, Jean, Tylee, Karen, Malaiya, Nilima, Bonney, Denise K., Jones, Simon A., Wraith, J Edmond, Wynn, Robert F.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
Get full text
Journal Article
Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect
Bonney, Denise K., O’Meara, Anne, Shabani, Abdu, Imrie, Jackie, Bigger, Brian W., Jones, Simon, Wraith, James E., Wynn, Robert F.
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
Get full text
Journal Article
The majority of MPS I patients tested raise inhibitory allo-antibodies against enzyme replacement therapy
Saif, Muhammad, Brookes, Karen E., Mercer, Jean, Tylee, Karen L., Church, Heather J., Bonney, Denise K., Jones, Simon, Wraith, J. Ed, Wynn, Robert F., Bigger, Brian W.
Published in Molecular genetics and metabolism (01.02.2013)
Published in Molecular genetics and metabolism (01.02.2013)
Get full text
Journal Article
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience: Mucopolysaccharidoses
WISEMAN, Daniel H, MERCER, Jean, TYLEE, Karen, MALAIYA, Nilima, BONNEY, Denise K, JONES, Simon A, WRAITH, J. Edmond, WYNN, Robert F
Published in Journal of inherited metabolic disease (2013)
Get full text
Published in Journal of inherited metabolic disease (2013)
Journal Article