Results 241 to 250 of about 5,661,504 (280)

Developing AAV-based gene therapy for adrenoleukodystrophy (X-ALD)

Cytotherapy, 2019
Background & Aim Adrenoleukodystrophy (X-ALD) is an X-linked disease. ALD is caused by mutations of the gene encoding ATP-Binding cassette subfamily D member 1 (ABCD1), a peroxisomal transmembrane protein. Dysfunctional ABCD1 protein results in excessive accumulation of very long chain fatty acid (VLCFA) in neural system and leads to demyelination and
C. MA, Z. Zhang, H. Feng, C. Li, L. Chen, J. Chen, L. Lai, Q. Lian   +7 more
openaire   +1 more source

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

Molecular Genetics and Metabolism, 2002
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder. The gene associated with X-ALD, ABCD1, encodes a peroxisomal ATP-binding cassette half-transporter. In this study, we describe the molecular characterization of 21 affected Portuguese families.
Carla P, Guimarães, Manuela, Lemos, Clara, Sá-Miranda, Jorge E, Azevedo   +3 more
openaire   +2 more sources

X-Linked Adrenoleukodystrophy (X-ALD)

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin, 2012
M, Fenchel, A, Korn, T, Nägele, U, Ernemann, M, Horger   +4 more
openaire   +3 more sources

Pharmacological induction of redundant genes for a therapy of X-ALD: phenylbutyrate and other compounds.

Advances in experimental medicine and biology, 2003
International ...
Bugaut, M, Fourcade, S, Gondcaille, C, Gueugnon, Fabien, Depreter, M, Roels, F, Netik, A, Berger, J, Martin, Pascal G.P., Pineau, Thierry, Cadepond, F, El Etr, M, Savary, Serge   +12 more
openaire   +2 more sources

X-ALD as the Cause of Autistic Behavior

Neuropediatrics, 2017
J. Opp, J. Walter
openaire   +1 more source

The genotype and phenotype studies of 40 Chinese patients with X-linked adrenoleukodystrophy (X-ALD).

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2014
To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy (X-ALD).Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing.Among these patients, four were siblings from two unrelated families,
Li-li, Ping, Xin-hua, Bao, Ai-hua, Wang, Hong, Pan, Ye, Wu, Hui, Xiong, Yue-hua, Zhang, Yu-wu, Jiang, Jiong, Qin, Xi-ru, Wu   +9 more
openaire   +1 more source

X-linked adrenoleukodystrophy (X-ALD)

2005
Helen V. Firth, Jane A. Hurst, Judith G. Hall   +2 more
openaire   +1 more source

Hoffnung auf Therapie bei der Stoffwechselerkrankung X-ALD

MMW - Fortschritte der Medizin, 2023
openaire   +1 more source

Substrate-dependent ALD of Cu on TiO and its performance in photocatalytic CO reduction

Chemical Engineering Journal, 2021
Baibiao Huang, Zeyan Wang, Ying Dai
exaly  

ADRENOLEUCODISTROFIA LIGADA AL X (X-ALD)

2018
Angela Catalina Sosa Molano, Eugenia Espinosa García, Luis Alejandro Barrera A., Olga Yaneth Echeverri Peña   +3 more
openaire   +1 more source