Results 171 to 180 of about 3,353 (190)

Novel ABCD1 mutation detected in a symptomatic female carrier of adrenoleukodystrophy

Neurology and Clinical Neuroscience, 2023
Yuki Taira, Mami Takemoto, Yumiko Nakano
exaly  

Contiguous ABCD1 DXS1357E deletion syndrome: Report of an autopsy case

Neuropathology, 2013
Masayuki Itoh, Masashi Mizuguchi, Takanori Yamagata   +2 more
exaly  

Impaired Very Long-chain Acyl-CoA β-Oxidation in Human X-linked Adrenoleukodystrophy Fibroblasts Is a Direct Consequence of ABCD1 Transporter Dysfunction*

Journal of Biological Chemistry, 2013
Sonja Forss-Petter, Günther Regelsberger, Johannes Berger   +2 more
exaly  

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Human Mutation, 2001
Hans R Waterham, Ronald Wanders, Garry R Cutting   +2 more
exaly  

Very Long Chain Fatty Acid β-Oxidation in Astrocytes: Contribution of the ABCD1-Dependent and -Independent Pathways

Biological and Pharmaceutical Bulletin, 2012
Masashi Morita, Tsuneo Imanaka
exaly  

The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

Laboratory Investigation, 2007
Ann B. Moser, Aurora Pujol, Martina C McGuinness   +2 more
exaly  

X-linked-adrenoleukodistrophy with a new mutation in the ABCD1 gene

Journal of the Neurological Sciences, 2015
N. García Lax, J. Marín Marín, P.A. Sánchez Ayaso, A.M. García Medina, I. Sánchez Ortuño, A. Sanz Monllor, J.A. Motos García, M. Palao Rico, M.P. Salmerón Ato, M.L. Martínez Navarro, J.A. Iniesta Valera, A. Díaz Ortuño   +11 more
openaire   +1 more source

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

Neurogenetics, 2010
Shoji Tsuji, Takashi Matsukawa, Osamu Onodera   +2 more
exaly  

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2019
Babak Emamalizadeh, Hossein Darvish, Abbas Tafakhori   +2 more
exaly  

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

Human Mutation, 2002
Eberhard Schwinger
exaly