Results 41 to 50 of about 18,427 (209)

X-linked adult-onset adrenoleukodystrophy: Psychiatric and neurological manifestations

SAGE Open Medical Case Reports, 2017
Adult-onset adrenoleukodystrophy is a rare x-linked inborn error of metabolism occurring predominantly in males with onset in early 30s. Here, we report a 34-year-old male with first signs of disease in early 20s manifesting as a pure psychiatric ...
Daniah Shamim, Karen Alleyne
doaj   +1 more source

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

Revista Paulista de Pediatria
Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related
Fernanda Luiza Schumacher Furlan, Macleise Andres Lemes, Ligia Cecilia Fuverki Suguimatsu, Carolina Teixeira Furquim Pires, Mara Lucia Schmitz Ferreira Santos   +4 more
doaj   +1 more source

Uptake and metabolism of plasma-derived erucic acid by rat brain

Journal of Lipid Research, 2006
We examined the ability of erucic acid (22:1n-9) to cross the blood-brain barrier (BBB) by infusing [14–14C]22:1n-9 (170 μCi/kg, iv and icv) into awake, male rats. [1-14C]arachidonic acid (20:4n-6) [intravenous (i.v.)] was the positive control. After i.v.
Mikhail Y. Golovko, Eric J. Murphy
doaj   +1 more source

A case of female adrenoleukodystrophy carrier with insidious neurogenic bladder

Journal of General and Family Medicine, 2020
A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract.
Koji Obara, Erika Abe, Nobuyuki Shimozawa, Itaru Toyoshima   +3 more
doaj   +1 more source

Interactions of very long-chain saturated fatty acids with serum albumin

Journal of Lipid Research, 2002
The remarkable binding properties of serum albumin have been investigated extensively, but little is known about an important class of fatty acids, the very long-chain saturated fatty acids (VLCFA; >18 carbons). Although VLCFA are metabolized efficiently
Ji-Kyung Choi, Jet Ho, Stephen Curry, Donghui Qin, Robert Bittman, James A. Hamilton   +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

Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

Nigerian Journal of Paediatrics, 2021
Adrenoleukodystrophy (ALD) is a hereditary, X-linked metabolic disorder with autosomal recessive traits. It arises from mutation in ABCD1 gene on chromosome Xq28.
Akowundu Pauline Karachi, Opoola Zainab Aramide, Ibrahim Usman Olaitan, Lesi Foluso Afolab   +3 more
doaj  

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

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

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