Zobrazeno 1 - 10
of 338
pro vyhledávání: '"G. Steward"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy and fatigue due to mu
Externí odkaz:
https://doaj.org/article/32b4bab57af8497fb056aedf884ea60d
Autor:
Tashunka Taylor-Miller, Ponni Sivaprakasam, Sarah F. Smithson, Colin G. Steward, Christine P. Burren
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100738- (2021)
Autosomal recessive osteopetrosis (ARO) is rare, involving increased bone density due to defective osteoclast differentiation or function, with several genetic subtypes. Case: This child with compound heterozygous novel loss-of-function TNFRSF11A pat
Externí odkaz:
https://doaj.org/article/c45ef3a1ef9143d9a52d88dac1481010
Autor:
Roberto Angelini, Simona Lobasso, Ruggiero Gorgoglione, Ann Bowron, Colin G. Steward, Angela Corcelli
Publikováno v:
Journal of Lipid Research, Vol 56, Iss 9, Pp 1787-1794 (2015)
Barth syndrome (BTHS), an X-linked disease associated with cardioskeletal myopathy, neutropenia, and organic aciduria, is characterized by abnormalities of cardiolipin (CL) species in mitochondria. Diagnosis of the disease is often compromised by l
Externí odkaz:
https://doaj.org/article/aa3e43b617a5407c9c845a53f8d4d50f
Autor:
Palmer G. Steward
Publikováno v:
Journal of Applied Mathematics and Physics. :545-555
Dispersing emitters, whose emissions are consistent with the inverse square law, from a point into cylindrical shapes causes a field-strength depression which is strongly dependent upon the cylinder’s dimensions and the distance from the cylinder.
Autor:
Klaus Warnatz, Kohsuke Imai, Bénédicte Neven, Mette Holm, Ulrich Duffner, B Carpenter, Musa Karakukcu, Hassan Abolhassani, Robert Wynn, Neena Kapoor, Jennifer A. Kanakry, Marina Garcia-Prat, Mariacristina Menconi, Anna Mukhina, Pere Soler-Palacín, Takahiro Tomoda, Claudia Wehr, Diana K. Bayer, Eleonora Gambineri, Gulbu Uzel, Austen Worth, Arunkumar Modi, Mary Slatter, Tania Nicole Masmas, Dimana Dimitrova, Carsten Speckmann, J.J. Bleesing, Shankara Paneesha, Kanchan Rao, Sylwia Kołtan, Carmem Bonfim, Jasmeen Dara, Colin G. Steward, Winnie Ip, Emma C. Morris, Asghar Aghamohammadi, Andrew R. Gennery, Gašper Markelj, Luigi D. Notarangelo, Stephen M. Hughes, Sujal Ghosh, Tsubasa Okano, Ansgar Schulz, Arjan C. Lankester, Stephen Jolles, Ebru Yilmaz, Alexandra Laberko, Maria Elena Maccari, Stephan Ehl, Christopher C. Dvorak, Despina Moshous, Hyoung Jin Kang, Carolina Prando, Zohreh Nademi
Publikováno v:
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', Journal of Allergy and Clinical Immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
The Journal of allergy and clinical immunology, vol 149, iss 1
Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
Scientia
The Journal of allergy and clinical immunology, vol 149, iss 1
Journal of Allergy and Clinical Immunology, 149(1), 410-421. MOSBY-ELSEVIER
The Journal of allergy and clinical immunology
Dimitrova, D, Nademi, Z, Maccari, M E, Ehl, S, Uzel, G, Tomoda, T, Okano, T, Imai, K, Carpenter, B, Ip, W, Rao, K, Worth, A J J, Laberko, A, Mukhina, A, Néven, B, Moshous, D, Speckmann, C, Warnatz, K, Wehr, C, Abolhassani, H, Aghamohammadi, A, Bleesing, J J, Dara, J, Dvorak, C C, Ghosh, S, Kang, H J, Markelj, G, Modi, A, Bayer, D K, Notarangelo, L D, Schulz, A, Garcia-Prat, M, Soler-Palacín, P, Karakükcü, M, Yilmaz, E, Gambineri, E, Menconi, M, Masmas, T N, Holm, M, Bonfim, C, Prando, C, Hughes, S, Jolles, S, Morris, E C, Kapoor, N, Koltan, S, Paneesha, S, Steward, C, Wynn, R, Duffner, U, Gennery, A R, Lankester, A C, Slatter, M & Kanakry, J A 2022, ' International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome ', The Journal of allergy and clinical immunology, vol. 149, no. 1, pp. 410-421.e7 . https://doi.org/10.1016/j.jaci.2021.04.036
Scientia
Immunodeficiència primària; Limfoproliferació; Inhibidor de mTOR Inmunodeficiencia primaria; Linfoproliferación; Inhibidor de mTOR Primary immunodeficiency; Lymphoproliferation; MTOR inhibitor Background Activated phosphoinositide 3-kinase delta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fff24621d0b56e0aaf43e9d30b95d29e
https://hdl.handle.net/1887/3277790
https://hdl.handle.net/1887/3277790
Autor:
Lucy Dabner, Georgia Herbert, Aidan Searle, Michaela K. Damin, Guido E Pieles, Colin G. Steward
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Background Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy and fatigue due to muscle dise
Autor:
Ponni Sivaprakasam, Colin G. Steward, Tashunka Taylor-Miller, Christine P Burren, Sarah F. Smithson
Publikováno v:
Bone Reports, Vol 14, Iss, Pp 100738-(2021)
Bone Reports
Taylor-Miller, T, Sivaprakasam, P, Smithson, S F, Steward, C G & Burren, C P 2021, ' Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis ', Bone reports, vol. 14, 100738, pp. 100738 . https://doi.org/10.1016/j.bonr.2020.100738
Bone Reports
Taylor-Miller, T, Sivaprakasam, P, Smithson, S F, Steward, C G & Burren, C P 2021, ' Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis ', Bone reports, vol. 14, 100738, pp. 100738 . https://doi.org/10.1016/j.bonr.2020.100738
Autosomal recessive osteopetrosis (ARO) is rare, involving increased bone density due to defective osteoclast differentiation or function, with several genetic subtypes. Case This child with compound heterozygous novel loss-of-function TNFRSF11A path
Autor:
Michael C. Mackey, Ruth Newbury-Ecob, Audrey Anna Bolyard, David C. Dale, Sarah J. Groves, Valerie M. Bowen, Melissa K. Maisenbacher, Birgitta Versluys, Michaela K. Damin, Katherine R. McCurdy, Carolyn T. Taylor, Hulya Ozsahin, Colin G. Steward
Publikováno v:
Steward, C G, Groves, S J, Taylor, C T, Maisenbacher, M K, Versluys, B, Newbury-Ecob, R A, Ozsahin, H, Damin, M K, Bowen, V M, McCurdy, K R, Mackey, M C, Bolyard, A A & Dale, D C 2019, ' Neutropenia in Barth syndrome : characteristics, risks, and management ', Current Opinion in Hematology, vol. 26, no. 1, pp. 6-15 . https://doi.org/10.1097/MOH.0000000000000472
Current Opinion in Hematology, 26(1), 6. Lippincott Williams and Wilkins
Current Opinion in Hematology, 26(1), 6. Lippincott Williams and Wilkins
Purpose of Review: Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes. Major features include neutropenia, dilated cardiomyopathy, motor delay and proximal myopath
Autor:
Elizabeth Thompson, Manigandan S. Thyagarajan, Elizabeth Johnson, David Weeden, Mary Morgan, Sarah J. Groves, Colin G. Steward
Publikováno v:
Case Reports in Radiology, Vol 2014 (2014)
Externí odkaz:
https://doaj.org/article/59d499f4ea3f4b4696b5916523e7c8a4
Autor:
Lucy Dabner, Guido E Pieles, Colin G Steward, Julian P Hamilton-Shield, Andrew R Ness, Chris A Rogers, Chiara Bucciarelli-Ducci, Rosemary Greenwood, Lucy Ellis, Karen Sheehan, Barnaby C Reeves
BACKGROUND Barth syndrome is a rare, life-threatening, X-linked recessive genetic disease that predominantly affects young males and is caused by abnormal mitochondrial lipid metabolism. Currently, there is no definitive treatment for Barth syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4acfffdbeee58bc75d2e2bf4d4114d7
https://doi.org/10.2196/preprints.22533
https://doi.org/10.2196/preprints.22533