Zobrazeno 1 - 10
of 163
pro vyhledávání: '"Gerald V. Raymond"'
Autor:
Ashish Gupta, Paul J. Orchard, Weston P. Miller, Dave R. Nascene, Gerald V. Raymond, Daniel J. Loes, David H. McKenna, Troy C. Lund
Publikováno v:
Stem Cells Translational Medicine, Vol 9, Iss 5, Pp 554-558 (2020)
Abstract Cerebral adrenoleukodystrophy is an inflammatory demyelinating condition that is the result of a mutation in the X‐linked ABCD1 gene, a peroxisomal very long chain fatty acid transporter. Although mutations in this gene result in adrenal i
Externí odkaz:
https://doaj.org/article/e6f06e59a3d9464080cc37608828ff40
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 16 (2022)
Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated fo
Externí odkaz:
https://doaj.org/article/456af9052a1343a9ad67160a78582374
Autor:
Deborah E. Williard, Joseph O. Nwankwo, Terry L. Kaduce, Shawn D. Harmon, Mira Irons, Hugo W. Moser, Gerald V. Raymond, Arthur A. Spector
Publikováno v:
Journal of Lipid Research, Vol 42, Iss 4, Pp 501-508 (2001)
Polyunsaturated fatty acid (PUFA) utilization was investigated in skin fibroblasts cultured from a female patient with an inherited abnormality in lipid metabolism. These deficient human skin fibroblasts (DF) converted 85–95% less [1-14C]linoleic a
Externí odkaz:
https://doaj.org/article/098e851cd49b4f2e816301dcf16873e2
Autor:
Ann B. Moser, Richard O. Jones, Walter C. Hubbard, Silvia Tortorelli, Joseph J. Orsini, Michele Caggana, Beth H. Vogel, Gerald V. Raymond
Publikováno v:
International Journal of Neonatal Screening, Vol 2, Iss 4, p 15 (2016)
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This art
Externí odkaz:
https://doaj.org/article/b0bd0712af67421a8e14f4ceb3e7863e
Autor:
Eric James Mallack, Keith P. Van Haren, Anna Torrey, Stephanie van de Stadt, Marc Engelen, Gerald V. Raymond, Ali Fatemi, Florian S. Eichler
Publikováno v:
Neurology, 99(5), E512-E520. Lippincott Williams and Wilkins
Neurology
Neurology
Background and ObjectivesWe sought to characterize the natural history and standard-of-care practices between the radiologic appearance of brain lesions, the appearance of lesional enhancement, and treatment with hematopoietic stem-cell transplant or
Autor:
Keith P. van Haren, Jacob Wilkes, Ann B. Moser, Gerald V. Raymond, Troy Richardson, Patrick Aubourg, Timothy W. Collins, Ellen M. Mowry, Joshua L. Bonkowsky
Publikováno v:
Annals of the Child Neurology Society.
Autor:
Marcia R. Terluk, Julianne Tieu, Siddhee A. Sahasrabudhe, Ann Moser, Paul A. Watkins, Gerald V. Raymond, Reena V. Kartha
Publikováno v:
Neurotherapeutics
Adrenoleukodystrophy (ALD) is an X-linked inherited peroxisomal disorder due to mutations in the ALD protein and characterized by accumulation of very long-chain fatty acids (VLCFA), specifically hexacosanoic acid (C26:0). This can trigger other path
Autor:
Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O Regelman, Nicholas A Tritos, Alyssa Halper, Robin H Lachmann, James Davison, Gerald V. Raymond, Troy Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frederic M Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel
Publikováno v:
Engelen, M, van Ballegoij, W J C, Mallack, E J, van Haren, K P, Köhler, W, Salsano, E, van Trotsenburg, A S P, Mochel, F, Sevin, C, Regelmann, M O, Tritos, N A, Halper, A, Lachmann, R H, Davison, J, Raymond, G V, Lund, T C, Orchard, P J, Kuehl, J-S, Lindemans, C A, Caruso, P, Turk, B R, Moser, A B, Vaz, F M, Ferdinandusse, S, Kemp, S, Fatemi, A, Eichler, F S & Huffnagel, I C 2022, ' International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy : A Consensus-Based Approach ', Neurology, vol. 99, no. 21, pp. 940-951 . https://doi.org/10.1212/WNL.0000000000201374
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by three core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral
Autor:
Keith Van Haren, Kristen Cunanan, Avni Awani, Meng Gu, Dalia Peña, Lindsay C. Chromik, Michal Považan, Nicole C. Rossi, Jennifer Winterbottom, Jordan Goodman, Vandana Sundaram, Gerald V Raymond, Tina Cowan, Gregory M. Enns, Emmanuelle Waubant, Lawrence Steinman, Peter B. Barker, Daniel Spielman, Ali Fatemi
ObjectiveVitamin D status has been linked to risk of inflammatory brain lesions. We sought to assess the safety and pharmacokinetics of oral vitamin D dosing regimens in boys with X-linked adrenoleukodystrophy (ALD).MethodsIn this open-label, multi-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7ebdbcd208faf3fd54229b5d910ee76
https://doi.org/10.1101/2021.12.28.21267861
https://doi.org/10.1101/2021.12.28.21267861
Publikováno v:
International journal of neonatal screening. 8(1)
Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated fo