Results 91 to 100 of about 4,338 (139)

Nervonic acid and the long arc of therapeutic hope in X-linked adrenoleukodystrophy. [PDF]

Neurotherapeutics
Eichler F.
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

Clinical and radiological characteristics of adult-onset X-linked adrenoleukodystrophy: a Chinese cohort study and review of the literature. [PDF]

BMC Neurol
Xiao H, Huang H, Chen Y, Luo Y, Tang Z, Tan X, Shi X, Wang C, Zhang H, Fang J, Tang J.   +10 more
europepmc   +1 more source

Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades. [PDF]

Yonsei Med J
Choi Y, Kim SH, Ahn SJ, Oh EK, Cho JH, Shin HY, Kim SW, Choi YC, Park HJ.   +8 more
europepmc   +1 more source

Home-Based Rehabilitation With Frenkel's Exercises for Adrenomyeloneuropathy: A Case Report. [PDF]

Cureus
Ishikawa T.
europepmc   +1 more source

Living with adrenoleukodystrophy: adult patient and caregiver perspectives. [PDF]

Orphanet J Rare Dis
Fine AS, Sullivan-Fortin KO, Miettunen K, Emerson F, Sadjadi R, Fatemi A, Eichler F.   +6 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

Late-Onset X-linked Adrenoleukodystrophy: A Rare Cause of Progressive Spastic Paraparesis. [PDF]

Cureus
Sequeira S, Costa A, Vargas M, Velon A.
europepmc   +1 more source

Attitudes Toward Sex-Specific Versus Universal Newborn Screening for X-Linked Adrenoleukodystrophy in Hong Kong. [PDF]

Int J Neonatal Screen
Mak CM, Wu HY, Wong AY, Song FE, Chan TCH, Fung CW, Wong SN, Hau EWL, Yeung MCW.   +8 more
europepmc   +1 more source

Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience. [PDF]

Indian J Med Res
Kumar S, Bothra M, Choudhary N, Faruq M, Suravajhala R, Jetly S, Kumar Polipalli S, Kumar A, Uppal K, Suravajhala P, Saran RK, Kabra M, Kapoor S.   +12 more
europepmc   +1 more source