Results 121 to 130 of about 14,971 (151)

Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
van de Stadt SIW, Wessel AMA, Langeveld M, Engelen M, Sjouke B.   +4 more
europepmc   +1 more source

An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Kabak EG, van Dodewaard F, Roosendaal SD, Yska HAF, Voermans MMC, Bourgeais M, Perlbarg V, Engelen M.   +7 more
europepmc   +1 more source

Neurodegenerative Diseases in Children: A Comprehensive Review. [PDF]

Int J Mol Sci
Ailioaie C, Ailioaie LM, Stan CI, Sava A, Chiran DA.   +4 more
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

Dietary Approaches in the Management of Adrenoleukodystrophy: Evidence Summary for Nutritional Tips. [PDF]

Nutrients
Di Stefano A, Ricci L, Ferrari D, Frigerio F, Minnetti M, Fontana M, Donini LM, Isidori AM, Migliaccio S, Poggiogalle E.   +9 more
europepmc   +1 more source

Clinical Vigilance in Rare Disease Management: Atypical Features Lead to Discovery of Concurrent X-linked Adrenoleukodystrophy and Cystic Fibrosis. [PDF]

J Child Neurol
Taşar Ünsaçar K, Okur Altındaş B, Çaksen H, Pekcan S, Yücel A, Zamani AG.   +5 more
europepmc   +1 more source

A Novel Missense Variant of the ABCD1 Gene in X-Linked Adrenoleukodystrophy in Chinese Family. [PDF]

Mol Genet Genomic Med
Fu H, Han L, Liu X, He B, He P, Hu J.
europepmc   +1 more source

External controls for rare disease drug development: Lessons for emerging and advanced therapeutic modalities. [PDF]

Mol Ther Adv
Hughes SH, Beretich LA, Fuller M, Goodspeed K, Penn M, Valentino LA, McCombs C.   +6 more
europepmc   +1 more source

Attention deficits and psychotic symptoms mimicking childhood cerebral adrenoleukodystrophy: A case report. [PDF]

Indian J Psychiatry
Veeraraghavan V, Sharma D, Sharma S, Kaushik JS.   +3 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