Results 171 to 180 of about 19,093 (232)

Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial. [PDF]

EClinicalMedicine
García-Cazorla Á, Sevin C, Constante JR, Yazbeck E, Rosewich H, Jimenez S, Chia-Yi Chiang G, Rapalino O, Caruso P, Balentine D, Helmer KG, Bennett S, Emanuele M, Rodriguez-Pascau L, Pizcueta P, Pina G, Vilà A, Rovira M, Mantilla A, Meya U, Mistry A, Pascual M, Pascual S, Martinell M, Musolino PL, Mallack E.   +25 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

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

Adrenoleukodystrophy.

Indian pediatrics, 1996
U, Raja, K A, Krishnamurthy
openaire   +1 more source

Case Report: Incidental diagnosis of cystic fibrosis via whole genome sequencing alters HSCT planning in a child with cerebral X-linked adrenoleukodystrophy. [PDF]

Front Pediatr
Sy JAC, Tan PL, Lin JB, Tay SK, Chin HL.
europepmc   +1 more source

Post-Tuberculosis Adrenal Crisis in a Young Boy: A Case Report. [PDF]

Clin Case Rep
Haleem A, Ashraf S, Tarique D, Zohair M, Singh A, Ayalew BD.   +5 more
europepmc   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling. [PDF]

Balkan J Med Genet
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N.   +7 more
europepmc   +1 more source

The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. [PDF]

J Inherit Metab Dis
Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S.   +17 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