Detalhe da pesquisa
1.
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
Ann Neurol
; 95(3): 442-458, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062617
2.
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mol Genet Metab
; 139(3): 107604, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37236006
3.
Structural Characterization and Quantitation of Ether-Linked Glycerophospholipids in Peroxisome Biogenesis Disorder Tissue by Ultraviolet Photodissociation Mass Spectrometry.
Anal Chem
; 94(37): 12621-12629, 2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070546
4.
Drug discovery for X-linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long-chain fatty acids.
J Cell Biochem
; 122(10): 1337-1349, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056752
5.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
J Inherit Metab Dis
; 44(3): 728-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33373467
6.
Associations Between Systemic Omega-3 Fatty Acid Levels With Moderate-to-Severe Dry Eye Disease Signs and Symptoms at Baseline in the Dry Eye Assessment and Management Study.
Eye Contact Lens
; 47(1): 2-7, 2021 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097181
7.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220678
8.
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.
PLoS Genet
; 13(6): e1006825, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640802
9.
Adaptive variation, including local adaptation, requires decades to become evident in common gardens.
Ecol Appl
; 29(2): e01842, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30585672
10.
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Genet Med
; 20(10): 1274-1283, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419819
11.
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
Hum Mol Genet
; 24(2): 361-70, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168382
12.
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
Mol Genet Metab
; 122(3): 130-133, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28919002
13.
Therapeutic strategies in adrenoleukodystrophy.
Wien Med Wochenschr
; 167(9-10): 219-226, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493141
14.
Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.
Biochim Biophys Acta
; 1851(2): 117-28, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25463479
15.
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Mol Genet Metab
; 117(3): 313-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26750748
16.
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy.
Br J Clin Pharmacol
; 81(6): 1058-66, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26836218
17.
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
Brain
; 138(Pt 11): 3206-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377633
18.
Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.
Mol Ther
; 23(5): 824-834, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25592337
19.
Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate.
Prostate
; 75(2): 200-10, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25307752
20.
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Mol Genet Metab
; 114(1): 46-50, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25481105