Results 151 to 160 of about 2,524,227 (174)

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

Journal of Pediatric Endocrinology and Metabolism, 2019
Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families.
Babak, Emamalizadeh, Yousef, Daneshmandpour, Abbas, Tafakhori, Sakineh, Ranji-Burachaloo, Sajad, Shafiee, Elahe, Ghods, Hossein, Darvish   +6 more
openaire   +2 more sources

A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy

Gene, 2012
X-linked adrenoleukodystrophy (ALD; MIM #300100) is a neurodegenerative disorder caused by mutations in the ABCD1 adrenoleukodystrophy protein gene. The ABCD1 gene mutations have been reported by laboratories in China and Japan, but not in Korea. This case report describes a Korean boy diagnosed with X-ALD.
Jeong A, Park, Kyung Ran, Jun, Sung-Hee, Han, Gu-Hwan, Kim, Han-Wook, Yoo, Yun Jung, Hur   +5 more
openaire   +2 more sources

[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2004
To investigate mutations of ABCD1 gene in X- linked adrenoleukodystrophy (ALD) patients in China.Polymerase chain reaction and DNA direct sequencing were employed to analyze the 10 exons of ABCD1 gene in 25 ALD patients.Seventeen mutations in different exons (except exons 4, 9 and 10) were identified in 18 of 25 patients.
Hong, Pan, Hui, Xiong, Yue-hua, Zhang, Ye, Wu, Xin-hua, Bao, Yu-wu, Jiang, Xi-ru, Wu   +6 more
openaire   +1 more source

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum.

Neuro-degenerative diseases, 2019
Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients.To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation.A total of ...
Yusen, Qiu, Ling, Xin, Yuyao, Wang, Yanyan, Yu, Keji, Zou, Qian, Zhou, Yunqing, Chen, Shuyun, Chen, Min, Zhu, Daojun, Hong   +9 more
openaire   +1 more source

Gene symbol: ABCD1.

Human genetics, 2007
Lenka, Dvorakova, Helena, Myskova, Roque Daniel, Carrero-Valenzuela, Tristan, Antelo, Jorge, Fagalde, Daniela, Merched   +5 more
openaire   +3 more sources

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis.

Duodecim; laaketieteellinen aikakauskirja, 2018
We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women.
Emil, Ylikallio, Elisa, Rahikkala, Riikka, Keski-Filppula, Mari, Auranen, Henna, Tyynismaa   +4 more
openaire   +1 more source

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy

Cells, 2022
Eric J Mallack, Marc Engelen, Stephan Kemp   +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

Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model

Gene Therapy, 2022
Troy C Lund, Lung-Ji Chang, Yunyun Liu
exaly  

Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene

Journal of the Neurological Sciences, 2007
Peter Turcani, Stanislav Šutovský, Robert Petrovič   +2 more
exaly