Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Martin J.A. Schackmann"'
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, 1851(2), 231-237. Elsevier
X-linked adrenoleukodystrophy (X-ALD) is a neurometabolic disease that is caused by mutations in the ABCD1 gene. ABCD1 protein deficiency impairs peroxisomal very long-chain fatty acid (VLCFA) degradation resulting in increased cytosolic VLCFA-CoA le
Autor:
Rob Ofman, Inge M. E. Dijkstra, Ronald J.A. Wanders, Klaartje van Engelen, Björn M. van Geel, Stephan Kemp, Marc Engelen, Martin J.A. Schackmann
Publikováno v:
Molecular Genetics and Metabolism, 118(2), 123-127. Academic Press Inc.
Molecular genetics and metabolism, 118(2), 123-127. Academic Press Inc.
Schackmann, M J A, Ofman, R, van Geel, B M, Dijkstra, I M E, van Engelen, K, Wanders, R J A, Engelen, M & Kemp, S 2016, ' Pathogenicity of novel ABCD1 variants : The need for biochemical testing in the era of advanced genetics ', Molecular Genetics and Metabolism, vol. 118, no. 2, pp. 123-127 . https://doi.org/10.1016/j.ymgme.2016.03.009
Molecular genetics and metabolism, 118(2), 123-127. Academic Press Inc.
Schackmann, M J A, Ofman, R, van Geel, B M, Dijkstra, I M E, van Engelen, K, Wanders, R J A, Engelen, M & Kemp, S 2016, ' Pathogenicity of novel ABCD1 variants : The need for biochemical testing in the era of advanced genetics ', Molecular Genetics and Metabolism, vol. 118, no. 2, pp. 123-127 . https://doi.org/10.1016/j.ymgme.2016.03.009
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. In male patients, an increased plasma VLCFA levels in combination wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7d143bdb668a1a1269d726224a60a6
https://research.vumc.nl/en/publications/40a16161-c5e4-4530-a51c-b8e439ccd5b4
https://research.vumc.nl/en/publications/40a16161-c5e4-4530-a51c-b8e439ccd5b4
Autor:
Malu Clair Van De Beek, Frédéric M. Vaz, Ronald J.A. Wanders, Nicolas Schauer, Wim Kulik, Inge M. E. Dijkstra, Stephan Kemp, Dalia Goldhaber-Pasillas, Marc Engelen, Martin J.A. Schackmann, Rob Ofman, Henk van Lenthe, Joo Yeon Engelen-Lee
Publikováno v:
PLoS ONE, 11(4). Public Library of Science
PLoS ONE
PLoS ONE, Vol 11, Iss 4, p e0154597 (2016)
PLoS ONE
PLoS ONE, Vol 11, Iss 4, p e0154597 (2016)
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN). A subset of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a2ac3d91894fc0386f7071fce41c9c4
https://pure.amc.nl/en/publications/c260carnitine-is-a-new-biomarker-for-xlinked-adrenoleukodystrophy-in-mice-and-man(921e9d9f-782c-4ff3-a320-776fbeeaff45).html
https://pure.amc.nl/en/publications/c260carnitine-is-a-new-biomarker-for-xlinked-adrenoleukodystrophy-in-mice-and-man(921e9d9f-782c-4ff3-a320-776fbeeaff45).html
Autor:
Rob Ofman, Ronald J.A. Wanders, Robert-Jan Sanders, Aurora Pujol, Inge M. E. Dijkstra, Sander M. Houten, Marc Engelen, Bwee Tien Poll-The, Martin J.A. Schackmann, Stéphane Fourcade, Stephan Kemp
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 35(6), 1137-1145. Springer Netherlands
Journal of Inherited Metabolic Disease; Vol 35
Journal of inherited metabolic disease, 35(6), 1137-1145. Springer Netherlands
Journal of Inherited Metabolic Disease; Vol 35
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding ALDP, an ATP-binding-cassette (ABC) transporter located in the peroxisomal membrane. ALDP deficiency results in impaired peroxisomal β-oxidation and the subseque
Autor:
Rob Ofman, Stephan Kemp, Inge M. E. Dijkstra, Ronald J.A. Wanders, Marc Engelen, Martin J.A. Schackmann
Publikováno v:
Tijdschrift voor Kindergeneeskunde. 81:102-102
INTRODUCTION X-linked adrenoleukodystrophy (X-ALD) is a demyelinating disease characterized by high levels of very long-chain fatty acids (VLCFA) in plasma and tissues, due to defi cient transport of VLCFA into peroxisomes, where they would normally