Results 91 to 100 of about 1,447 (169)

Rigorous genetic diagnosis review in natural history studies. [PDF]

Orphanet J Rare Dis
Pizzino A, Arnold K, Wiener E, Muirhead K, Schmidt J, Dominguez-Gonzalez CA, Banglorewala P, Fraser JL, Ruzhnikov M, Cohen JS, Sherbini O, Logan R, Gavazzi F, Sevagamoorthy A, Vincent A, D'Aiello R, Vanderver A.   +16 more
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

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

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. [PDF]

Neurology
Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.   +30 more
europepmc   +1 more source

Adrenomyeloneuropathy – a case report

European Journal of Clinical and Experimental Medicine, 2019
Natalia Leksa, David Aebisher, Sabina Galiniak, Dominika Uberman-Kluz, Serweryn Bartosz, Dorota Bartusik-Aebisher   +5 more
openaire   +1 more source

Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report. [PDF]

Am J Transl Res
Xia D, Fu X, Meng Y, Yang C, Wang W, Wang Z.   +5 more
europepmc   +1 more source

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy. [PDF]

Neurol Genet
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL.   +10 more
europepmc   +1 more source

Overview of genetic mutations causing adrenoleukodystrophy: A case-series study. [PDF]

Mol Genet Metab Rep
Fathi M, Khalilian S, Sayad A, Karimzadeh P, Ahmadabadi F, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Nervonic acid and the long arc of therapeutic hope in X-linked adrenoleukodystrophy

Neurotherapeutics
Florian Eichler
doaj   +1 more source

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report. [PDF]

Medicine (Baltimore)
Liu J, Wang X, Huang D, Qi Y, Xu L, Shao Y.   +5 more
europepmc   +1 more source