Results 91 to 100 of about 7,333,851 (157)

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy.

JIMD Reports, 2015
J. Hofereiter, Matthew D. Smith, J. Seth, K. Tudor, Z. Fox, A. Emmanuel, E. Murphy, R. Lachmann, J. Panicker   +8 more
semanticscholar   +1 more source

A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report

Neurological Sciences, 2018
Mengqi Zhang, Shupeng Shi, Haoran Zhang, Lihui Liu, Linchao Wu, B. Xiao, Weiping Liu   +6 more
semanticscholar   +1 more source

Peroxisomal ABCD1 deficiency in mice drives Th1 bias through 25-HC-LXR signaling in CD4⁺ T cells. [PDF]

Front Immunol
Maeda R, Oishi M, Nagamori R, Hikosaka-Kuniishi M, Watanabe S, Lee JB, Morita M, So T.   +7 more
europepmc   +1 more source

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report. [PDF]

J Int Med Res
Chang MC, Yang S.
europepmc   +1 more source

An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy. [PDF]

Int J Mol Sci
Gornostal E, Alsalloum A, Degtyarev E, Kuznetsova E, Levashova A, Mishina D, Mingaleva N, Mazloum A, Bogdanov V, Krupinova J, Mikhalkov S, Rybkina I, Mityaeva O, Volchkov P.   +13 more
europepmc   +1 more source

Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy. [PDF]

J Biol Chem
Kloss A, Parisi L, Wang D, Hanus M, Golden R, Keefe K, Chiang R, Li Y, Brezzani A, Lang P, Kayatekin C, Gladysheva T.   +11 more
europepmc   +1 more source

Phosphatidylcholine with C26:0 moiety, a precursor of a diagnostic marker for X-ALD, is synthesized by LPLAT10/LPEAT2. [PDF]

J Lipid Res
Hama K, Fujiwara Y, Imai K, Kusakabe Y, Hayashi Y, Takashima S, Azuma S, Kondo M, Yamashita A, Takita R, Shimozawa N, Yokoyama K.   +11 more
europepmc   +1 more source

Early neonatal diagnosis of SSR4-related congenital disorder of glycosylation with severe congenital heart defects: a case report and systematic review. [PDF]

Front Pediatr
Zhao L, Zeng L, Yi M, Yuan W.
europepmc   +1 more source

A comprehensive discovery platform for ELOVL1 small-molecule inhibitors targeting very long-chain fatty acid synthesis in adrenoleukodystrophy. [PDF]

J Biol Chem
Holley S, Asmussen G, Lam B, Zhao Z, Freed B, Guo L, Dostalova Z, Tang B, Kothe M, Lang P, Wang D, Hanus M, Belenky A, Cromwell M, Kloss A, Gladysheva T.   +15 more
europepmc   +1 more source