Results 131 to 140 of about 14,971 (151)

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

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

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

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

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

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

Ex Vivo Gene and Cell Therapy in Hematopoietic Stem Cells. [PDF]

Int J Mol Sci
Petrova IO, Smirnikhina SA.
europepmc   +1 more source

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source

Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]

Neurol Perspect
Ghosh R, León-Ruiz M, Jana A, Dubey S, Benito-León J.   +4 more
europepmc   +1 more source