Results 141 to 150 of about 18,288 (188)

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Prognostication and Biomarker Potential of C26:0 Lysophosphatidylcholine in Adrenoleukodystrophy. [PDF]

JAMA Pediatr
Billington CJ, Rayannavar A, Tryon R, Kaye T, Gupta A, Lund TC, Lteif A, Adriatico KL, Orchard PJ, Miller BS, Pillai NR.   +10 more
europepmc   +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

Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps. [PDF]

Dev Med Child Neurol
Groeschel S, Rosewich H.
europepmc   +1 more source

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study. [PDF]

Int J Neonatal Screen
Bonaventura E, Bruschi F, Alberti L, Antonello C, Arrigoni F, Balestriero M, Borsani B, Cappelletti L, Cattaneo E, Ferrario M, Fiore G, Iascone M, Izzo G, Lucchi S, Parazzini C, Perrone Donnorso M, Spaccini L, Vaia Y, Veggiotti P, Verduci E, Zuccotti G, Cereda C, Tonduti D, Xald-Nbs Study Group.   +23 more
europepmc   +1 more source

Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial. [PDF]

Ther Adv Neurol Disord
Schäfer L, Unterlauft A, Froebrich-Andreß B, Wollny C, Rößler M, Fischer R, Bähr C, Lier J, Wasmus DT, Bergner CC, Köhler W.   +10 more
europepmc   +1 more source

Adrenoleukodystrophy

, 2018
openaire   +1 more source

An AAV-Based Therapy Approach for Neurological Phenotypes of X-Linked Adrenoleukodystrophy. [PDF]

Int J Mol Sci
Gornostal E, Alsalloum A, Degtyarev E, Kuznetsova E, Levashova A, Mishina D, Mingaleva N, Mazloum A, Bogdanov V, Krupinova J, Mikhalkov S, Rybkina I, Mityaeva O, Volchkov P.   +13 more
europepmc   +1 more source

Correction to "Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases". [PDF]

J Inherit Metab Dis
europepmc   +1 more source

Evolution of the lipidome uncovers early changes in adrenoleukodystrophy human cortical and spinal organoids. [PDF]

iScience
Ferrer RM, Jaspers YRJ, Coveña N, Breeuwsma N, Dijkstra IME, Kempff J, Klinken JV, Wortel J, van Weering JRT, Engelen M, Kemp S, Heine VM.   +11 more
europepmc   +1 more source