Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome

Por Angelini, Roberto, Lobasso, Simona, Gorgoglione, Ruggiero, Bowron, Ann, Steward, Colin G., Corcelli, Angela
Publicado no J Lipid Res (2015)

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Por Keogh Steven J, McKee Shane, Smithson Sarah F, Grier David, Steward Colin G
Publicado em 2012-05-01

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

Por Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Publicado em 2012

Lobar Collapse and Obliteration of Air Bronchogram Allowing Early Diagnosis of Endobronchial Aspergillus Infection following Hematopoietic Stem Cell Transplantation

Por Thompson, Elizabeth, Thyagarajan, Manigandan S., Johnson, Elizabeth, Weeden, David, Morgan, Mary, Groves, Sarah J., Steward, Colin G.
Publicado no Case Rep Radiol (2014)

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2014)

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado no J Inherit Metab Dis (2015)

Barth syndrome

Por Clarke Sarah LN, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G
Publicado em 2013-02-01

Barth syndrome

Por Clarke, Sarah LN, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Publicado em 2013

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

Por Booth, Claire, Gilmour, Kimberly C., Veys, Paul, Gennery, Andrew R., Slatter, Mary A., Chapel, Helen, Heath, Paul T., Steward, Colin G., Smith, Owen, O'Meara, Anna, Kerrigan, Hilary, Mahlaoui, Nizar, Cavazzana-Calvo, Marina, Fischer, Alain, Moshous, Despina, Blanche, Stephane, Pachlopnick-Schmid, Jana, Latour, Sylvain, de Saint-Basile, Genevieve, Albert, Michael, Notheis, Gundula, Rieber, Nikolaus, Strahm, Brigitte, Ritterbusch, Henrike, Lankester, Arjan, Hartwig, Nico G., Meyts, Isabelle, Plebani, Alessandro, Soresina, Annarosa, Finocchi, Andrea, Pignata, Claudio, Cirillo, Emilia, Bonanomi, Sonia, Peters, Christina, Kalwak, Krzysztof, Pasic, Srdjan, Sedlacek, Petr, Jazbec, Janez, Kanegane, Hirokazu, Nichols, Kim E., Hanson, I. Celine, Kapoor, Neena, Haddad, Elie, Cowan, Morton, Choo, Sharon, Smart, Joanne, Arkwright, Peter D., Gaspar, Hubert B.
Publicado em 2011