Results 31 to 40 of about 14,971 (151)

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

, 2019
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 (6878945), Macleise Andres Lemes (6878948), Ligia Cecilia Fuverki Suguimatsu (6878951), Mara Lucia Schmitz Ferreira Santos (6878957), Carolina Teixeira Furquim Pires (6878954)   +4 more
core   +2 more sources

Retroviral-mediated adrenoleukodystrophy-related gene transfer corrects very long chain fatty acid metabolism in adrenoleukodystrophy fibroblasts: implications for therapy

, 1999
X-linked adrenoleukodystrophy is a demyelinating disorder of the central nervous system with an impaired very long chain fatty acid metabolism. The adrenoleukodystrophy gene encodes a peroxisomal membrane protein that is part of a family of related ATP ...
Aubourg, Patrick, Cartier, Nathalie, Sanhaj, Ahmed, Patrick Aubourg, Nathalie Cartier, Elise Flavigny, Ahmed Sanhaj, Flavigny, Elise   +7 more
core   +1 more source

Visual Pigment Gene Changes in Adrenoleukodystrophy [PDF]

, 2020
Purpose. The gene for X-linked adrenoleukodystrophy, a neurodegenerative disorder, is closely linked to the red/green color pigment genes on the distal X-chromosome Xq28 and one kindred is known to have a genetic change affecting both loci.
/ R, George H Sack, M Kelly, William M Crifjin, Mr Daniel, James C Morrell   +5 more
core  

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

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

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

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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

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