Results 91 to 100 of about 29,741 (152)

Lipid signature in X-ALD: a comparison between phenotypes

Frontiers in Molecular Biosciences
BackgroundX-linked adrenoleukodystrophy (X-ALD) has highly variable phenotypes with no known genotype/phenotype correlation or method for predicting the course of the disease.
Alessandra Di Veroli, Sara Petrillo, Caterina Torda, Federica Loia, Teresa Rizza, Rosalba Carrozzo, Gabriele Cruciani, Enrico Bertini, Francesco Nicita, Fiorella Piemonte, Marco Cappa   +10 more
doaj   +1 more source

X-linked adrenoleukodystrophy: the Australasian experience

, 1998
Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing.
Carey, B., Sharp, P., Kirk, E., Fletcher, J., Poulos, A.   +4 more
core   +1 more source

Variable Clinical Presentations in a Korean Family with an Adrenoleukodystrophy [PDF]

, 2014
Adrenoleukodystrophy (ALD), caused by the alteration in ABCD1 gene, is an X-linked progressive neurodegenerativedisease characterized by the accumulation of very long chain fatty acids (VLCFA). ALDshows highly variable clinical presentations. The proband,
최영철
core  

The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology

Orphanet Journal of Rare Diseases
Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it represents the end-stage of neurodegeneration. It is still unclear what cell types are initially involved and what their role is in the disease process.
Hemmo A.F. Yska, Marc Engelen, Marianna Bugiani   +2 more
doaj   +1 more source

Letter to the Editor from Erdoğan Özbuğday and Karakurt: "Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy". [PDF]

JCEM Case Rep
Erdoğan Özbuğday H, Karakurt F.
europepmc   +1 more source

Nervonic acid and the long arc of therapeutic hope in X-linked adrenoleukodystrophy. [PDF]

Neurotherapeutics
Eichler F.
europepmc   +1 more source

Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy. [PDF]

Brain Commun
Meier K, Sahoo P, Marten LM, Gkalimani I, Helms G, Dechent P, Rosewich H, Dreha-Kulaczewski S, Gärtner J.   +8 more
europepmc   +1 more source

Biomarker changes in cerebral adrenoleukodystrophy after gene therapy or allogeneic hematopoietic cell transplant. [PDF]

Mol Ther Adv
Lund TC, Kemp S, Alikhani P, Willmert A, Braun J, Gupta A, Loes DJ, Nascene DR, Orchard PJ.   +8 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

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source