Results 121 to 130 of about 7,333,851 (157)

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2015
AbstractX-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in theWe describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death.Diagnosis was based on clinical symptoms, an abnormal very long chain ...
Yan-na Cai, M. Jiang, C. Liang, Min-Zhi Peng, Jing Cheng, H. Sheng, Li-ping Fan, Xi-qing Chen, Li Liu   +8 more
exaly   +4 more sources

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

Gene Therapy, 2022
Jie Gong, Yunyun Liu, Tsai-Hua Chung
exaly   +2 more sources

Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene

Psychiatric Genetics, 2021
Objective This study summarized the clinical characteristics of X-linked adrenoleukodystrophy (X-ALD) patients in this family, and two different manifestations of the same variants in a Chinese family were reported in this article.
Lin Zhang, Suli Zhao, Zhi Hong Wang
semanticscholar   +1 more source

ABCD1 Gene Mutations in Chinese Patients With X-Linked Adrenoleukodystrophy

Pediatric Neurology, 2005
X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the adrenoleukodystrophy (ALD) protein gene ABCD1. This study used direct sequencing of genomic polymerase chain reaction products to perform mutational analysis of ABCD1 in 34 unrelated Chinese X-linked adrenoleukodystrophy patients and 27 of their maternal relatives.
Hong, Pan, Hui, Xiong, Ye, Wu, Yue-Hua, Zhang, Xin-Hua, Bao, Yu-Wu, Jiang, Xi-Ru, Wu   +6 more
openaire   +2 more sources

De Novo ABCD1 Gene Mutation in an Indian Patient With Adrenoleukodystrophy

Pediatric Neurology, 2008
A large number of ABCD1 gene mutations have been reported all over the world, but not previously in India. We report on the first known patient with childhood cerebral adrenoleukodystrophy and a de novo 3' splice-site mutation in this gene. Magnetic resonance imaging of the brain revealed large, confluent, hyperintense areas in the bilateral cerebral ...
Neeraj, Kumar, Pallavi, Shukla, Krishna K, Taneja, Veena, Kalra, Surendra K, Bansal   +4 more
openaire   +2 more sources

Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleucodystrophy

Journal of Genetics, 2010
gene in Indian population. The diagnosis was basedon clinical symptoms, substantial increase in plasma, verylong-chain fatty acids and typical MRI pattern. MRI of thepatient showed peritrigonal and cerebellar semioval whitematter hypodensities and hyperintense areas (T2/fluid atten-uated inversion recovery) in bilateral cerebral white mat-ter ...
Neeraj, Kumar, Krishna K, Taneja, Atul, Kumar, Deepti, Nayar, Bhupesh, Taneja, Satindra, Aneja, Madhuri, Behari, Veena, Kalra, Surendra K, Bansal   +8 more
openaire   +2 more sources

A Novel ABCD1 Gene Mutation in a Chinese-Taiwanese Patient with Adrenomyeloneuropathy

Pediatric Neurology, 2007
The ABCD1 gene mutation (previously ALD) has been reported in China, but not previously in Taiwan. This case report describes one Taiwanese patient whose clinical manifestations were compatible with adrenomyeloneuropathy. Direct sequencing for the ABCD1 gene of this patient and his mother detected a novel missense mutation, K513Q, in exon 6, the first ...
Yo-Tsen, Liu, Kang-Hsu, Lin, Bing-Wen, Soong, Kwong-Kum, Liao, Kon-Ping, Lin   +4 more
openaire   +2 more sources

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

World Journal of Pediatrics, 2015
Jun Ye, Hui-Wen Zhang, Wen-Juan Qiu
exaly   +2 more sources

A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD

, 2020
X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder caused by a mutation in ABCD1 gene. We present a 36‐year‐old, Filipino male, diagnosed with adrenomyeloneuropathy with later development of adult‐onset cerebral form of X‐ALD ...
K. J. Porto, T. Matsukawa, H. Ishiura, J. Mitsui, Alexandria E. Matic, Justine Megan F. Yu, J. Dominguez, Ludwig F. Damian, T. Toda, S. Tsuji   +9 more
semanticscholar   +1 more source

Molecular analysis of ABCD1 gene in Indian patients with X-linked Adrenoleukodystrophy

Clinica Chimica Acta, 2011
X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene.
Pallavi, Shukla, Neerja, Gupta, Sheffali, Gulati, Manju, Ghosh, Suman, Vasisht, Raju, Sharma, Arun K, Gupta, Veena, Kalra, Madhulika, Kabra   +8 more
openaire   +2 more sources