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Adrenoleukodystrophy

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

Teresa Joanna Stradomska, Małgorzata Syczewska, Ewa Jamroz, Agata Pleskaczyńska, Piotr Kruczek, Elżbieta Ciara, Anna Tylki-Szymanska

published 18 Sep 2020

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A combination of 7-ketocholesterol, lysosphingomyelin and bile acid-408 to diagnose Niemann-Pick disease type C using LC-MS/MS

Chen Wu, Takeo Iwamoto, Mohammad Arif Hossain, Keiko Akiyama, Junko Igarashi, Takashi Miyajima, Yoshikatsu Eto

published 08 Sep 2020

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Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia

Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong

published 08 May 2017

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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

Malu-Clair van de Beek, Inge M. E. Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas, Nicolas Schauer, Martin Schackmann, Joo-Yeon Engelen-Lee, Frédéric M. Vaz, Wim Kulik, Ronald J. A. Wanders, Marc Engelen, Stephan Kemp

published 28 Apr 2016

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Functional Characterization of IPSC-Derived Brain Cells as a Model for X-Linked Adrenoleukodystrophy

Mauhamad Baarine, Mushfiquddin Khan, Avtar Singh, Inderjit Singh

published 18 Nov 2015

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Abcd2 Is a Strong Modifier of the Metabolic Impairments in Peritoneal Macrophages of Abcd1-Deficient Mice

Zahid Muneer, Christoph Wiesinger, Till Voigtländer, Hauke B. Werner, Johannes Berger, Sonja Forss-Petter

published 25 Sep 2014

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Evaluation of Retinoids for Induction of the Redundant Gene ABCD2 as an Alternative Treatment Option in X-Linked Adrenoleukodystrophy

Franziska D. Weber, Isabelle Weinhofer, Angelika Einwich, Sonja Forss-Petter, Zahid Muneer, Harald Maier, Willi H. A. Weber, Johannes Berger

published 31 Jul 2014

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Histone Deacetylase Inhibitor Upregulates Peroxisomal Fatty Acid Oxidation and Inhibits Apoptotic Cell Death in Abcd1-Deficient Glial Cells

Jaspreet Singh, Mushfiquddin Khan, Aurora Pujol, Mauhamad Baarine, Inderjit Singh

published 26 Jul 2013

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Familial Skewed X Chromosome Inactivation in Adrenoleukodystrophy Manifesting Heterozygotes from a Chinese Pedigree

Zhihong Wang, Aizhen Yan, Yuxiang Lin, Haihua Xie, Chunyan Zhou, Fenghua Lan

published 01 Mar 2013

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ABCD2 Is a Direct Target of β-Catenin and TCF-4: Implications for X-Linked Adrenoleukodystrophy Therapy

Chul-Yong Park, Han-Soo Kim, Jiho Jang, Hyunji Lee, Jae Souk Lee, Jeong-Eun Yoo, Dongjin R. Lee, Dong-Wook Kim

published 21 Feb 2013

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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, Mariela Roxana Monti, Carlos Enrique Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvoráková, Ana María Oller de Ramírez

published 31 Dec 2012

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Cerebrospinal Fluid Matrix Metalloproteinases Are Elevated in Cerebral Adrenoleukodystrophy and Correlate with MRI Severity and Neurologic Dysfunction

Kathryn A. Thibert, Gerald V. Raymond, David R. Nascene, Weston P. Miller, Jakub Tolar, Paul J. Orchard, Troy C. Lund

published 21 Nov 2012

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Bezafibrate for X-Linked Adrenoleukodystrophy

Marc Engelen, Luc Tran, Rob Ofman, Josephine Brennecke, Ann B. Moser, Inge M. E. Dijkstra, Ronald J. A. Wanders, Bwee Tien Poll-The, Stephan Kemp

published 20 Jul 2012

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