Results 41 to 50 of about 18,288 (188)

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller, Artuch, Brismar, Calabresi, Carre, Duarte, El-Bassyouni, Fenton, Hayashi, Krahenbuhl, Lindblad, Manoli, Manoli, Martin, McMurry, Moser, Reza Rezvani, Royes, Schrakamp, Scriver, Taneka, Trinh, Van Bakel, Velema, Wilke, Williams   +25 more
core   +1 more source

Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center

Indian Journal of Radiology and Imaging, 2021
Introduction X-linked adrenoleukodystrophy (X-ALD) is a devastating disease with a wide spectrum of presentation ranging from asymptomatic to a rapidly progressive childhood cerebral form.
Somesh Kumar, Haseena Sait, Sunil K. Polipalli, Gaurav S. Pradhan, Sumit Pruthi, Seema Kapoor   +5 more
doaj   +1 more source

Patient-powered research networks: building capacity for conducting patient-centered clinical outcomes research. [PDF]

, 2014
The Patient-Centered Outcomes Research Institute (PCORI) recently launched PCORnet to establish a single inter-operable multicenter data research network that will support observational research and randomized clinical trials.
Andrew A. Nierenberg, Bruce Robinson, Esi Morgan Dewitt, Florian Eichler, Holly Peay, Janice Buelow, John Walsh, Kathleen E. Sullivan, Liz Horn, Marc Natter, Mark Pletcher, Megan O'Boyle, Michael D Kappleman, Paul Avillach, Peter A. Merkel, Rachael Fleurence, Rebecca Sutphen, Richard Colletti, Richard Mularski, Robert McBurney, Sarah E Daugherty, Sarita Wahba, Seth Ginsberg, Sue Friedman, Susan Redline   +24 more
core   +1 more source

A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification

Frontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi, Xiaoxue Shi, Xiaoxue Shi, Xuelin Qi, Xuelin Qi, Jinhua Zheng, Jinhua Zheng, Jinhua Zheng, Jianjun Ma, Jianjun Ma, Jianjun Ma, Dongsheng Li, Dongsheng Li, Dongsheng Li   +13 more
doaj   +1 more source

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy

Journal of Neuroinflammation, 2011
Background Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder characterized by the abnormal beta-oxidation of very long chain fatty acids (VLCFA).
Orchard Paul J, Lund Troy, Miller Wes, Rothman Steven M, Raymond Gerald, Nascene David, Basso Lisa, Cloyd James, Tolar Jakub   +8 more
doaj   +1 more source

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2020
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD ...
Rinse W. Barendsen, Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp, Stephan Kemp   +28 more
doaj   +1 more source

Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy

International Journal of Neonatal Screening, 2022
Adrenoleukodystrophy (ALD) is a peroxisomal disorder affecting the nervous system, adrenal cortical function, and testicular function. Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and ...
Isha Kachwala, Molly O. Regelmann
doaj   +1 more source

How to move an amphipathic molecule across a lipid bilayer: different mechanisms for different ABC transporters? [PDF]

, 2016
Import of β-oxidation substrates into peroxisomes is mediated by ATP binding cassette (ABC) transporters belonging to subfamily D. In order to enter the β-oxidation pathway, fatty acids are activated by conversion to fatty acyl-CoA esters, a reaction ...
Agrimi, Alison Baker, Arai, Baker, Baker, Block, Bussell, Cantu, Coelho, David J. Carrier, Dawson, De Marcos Lousa, De Marcos Lousa, Dietrich, Doshi, Eckford, Ferdinandusse, Footitt, Fourcade, Frederica L. Theodoulou, Fulda, Geillon, Guimarães, Hayashi, Hettema, Hillebrand, Hillebrand, Hooks, Hu, Hurlock, Igoillo-Esteve, Kemp, Linka, Linka, Mendiondo, Morita, Mosser, Nyathi, Nyathi, Ofman, Palmieri, Perez, Procko, Shani, Shockey, Stephen A. Baldwin, Theodoulou, Theodoulou, Theresia A. Schaedler, van Roermund, van Roermund, van Roermund, van Roermund, van Roermund, Verchère, Verleur, Verrier, Ward, Wiesinger, Zhang, Zolman   +60 more
core   +3 more sources

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies

JCRPE, 2021
Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system.
Michael R Ryalls, Hoong-Wei Gan, James E Davison   +2 more
doaj   +1 more source