ADRENOLEUKODYSTROPHY

作品数：8被引量：5H指数：2
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Phase I clinical trial of intracerebral injection of lentiviral-ABCD1 for the treatment of cerebral adrenoleukodystrophy
《Science Bulletin》2024年第16期2596-2603,共8页Qiu-Hong Wang Jing Wanga Zhi-Pei Ling Zhi-Qiang Cui Jie Gong Rui Zhang Shi-Jun Li Yang-Yang Wang Rui Yang De-Hui Huang Wen He Jing Gao Chen Feng Pei-Li Hu Li-Ying Liu Lung-Ji Chang Li-Ping Zou 
supported by the Capital’s Funds for Health Improvement and Research(2022-1-5081);the National Key Research and Development Program of China(2023YFC2706304);Shenzhen Geno-Immune Medical Institute;Beijing Meikang Biotechnology Co.,LTD.
This was a single-arm,multicenter,open-label phase I trial.Lentiviral vectors(LV)carrying the ABCD1 gene(LV-ABCD1)was directly injected into the brain of patients with childhood cerebral adrenoleukodystrophy(CCALD),an...
关键词：ADRENOLEUKODYSTROPHY Lentiviral vectors ABCD1 Intracerebral injection 
Traditional Chinese medicine for gait disturbance in adrenoleukodystrophy:A case report and review of literature
《World Journal of Clinical Cases》2021年第31期9691-9698,共8页Hyungsuk Kim Taeoh Kim Whisung Cho Hokyung Chang Won-Seok Chung 
Supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute(KHIDI)(funded by the Ministry of Health&Welfare of the Republic of Korea),No.HI20C1405.
BACKGROUND Adrenoleukodystrophy(ALD)is caused by a deficit in the ABCD1 gene,which leads to demyelination of neurons and dysfunction of the adrenal cortices and testicles.Of the three known phenotypes,30%-50%of male A...
关键词：Traditional Chinese medicine Herbal medicine Gait disturbance ADRENOLEUKODYSTROPHY Adenosine triphosphate Case report 
Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy被引量：2
《World Journal of Biological Chemistry》2020年第3期99-111,共13页Shruti V Palakuzhiyil Rita Christopher Sadanandavalli Retnaswami Chandra 
Supported by Department of Biotechnology,New Delhi,India.No.BT/PR26150/MED/12/768/2017.
X-linked adrenoleukodystrophy(X-ALD),an inborn error of peroxisomalβ-oxidation,is caused by defects in the ATP Binding Cassette Subfamily D Member 1(ABCD1)gene.X-ALD patients may be asymptomatic or present with sever...
关键词：X-adrenoleukodystrophy Cerebral adrenoleukodystrophy ADRENOMYELONEUROPATHY Phenotypic variation MODIFIERS 
Adrenal Insufficiency by Adrenoleukodystrophy
《Health》2020年第1期1-13,共13页Elda Cristinne Mattos Botelho Eduardo Romero Sampaio Botelho Luciana Correa de Souza Rodrigues Tatiana Prado Wanderley Fernanda Navarini Queiroz Pollyana Cirino Gomes Borges Sabrina Arrais Rolim Aragao Ximenes Cruz Janete Pacheco da Silva Larissa Bianca Cunha de Sa Alberto Krayyem Arbex 
The X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder due to mutations in the ABCD1 gene. Objective: To report a case of a 19-year-old man with adrenal insufficiency due to adrenoleukodystroph...
关键词：ADRENOLEUKODYSTROPHY ADRENOMYELONEUROPATHY Adrenal Insufficiency Addison’s Disease 
Adult-Onset Adrenoleukodystrophy with Frontal Lobe Symptoms: A Case Report
《Open Journal of Psychiatry》2015年第2期180-185,共6页Maiko Hayashida Jun Horiguchi 
ALD, which is the X-linked adrenoleukodystrophy (X-ALD), is a rare inherited metabolic disease caused by an enzyme deficiency leading to accumulation of saturated very long chain fatty acid (VLCFA), especially in brai...
关键词：ADRENOLEUKODYSTROPHY Very Long FATTY Acid FRONTAL LOBE SYMPTOMS 
Adult Onset Cerebral X-Linked Adrenoleuokodystrophy in 18 Cases
《Health》2015年第6期723-728,共6页Yuko Furuhashi Masaya Ishikawa 
Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes. At least seven phenotype...
关键词：ADRENOLEUKODYSTROPHY Adult ONSET CEREBRUM HALLUCINATION DELUSION 
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy被引量：3
《World Journal of Pediatrics》2015年第4期366-373,共8页Shan-Shan Chu Jun Ye Hui-Wen Zhang Lian-Shu Han Wen-Juan Qiu Xiao-Lan Gao Xue-Fan Gu 
supported by a grant from the National Key Technology R&D Program(2012BAI09B00).
Background:X-linked adrenoleukodystrophy(X-ALD)is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1(ABCD1)gene.This study aimed to retrospectively investigate the ...
关键词：ABCD1 protein ADRENOLEUKODYSTROPHY adrenoleukodystrophy protein missense variant MUTATION 
Mutation pattern in human adrenoleukodystrophy protein in terms of amino-acid pair predictability
《Journal of Biomedical Science and Engineering》2010年第3期262-267,共6页Shao-Min Yan Guang Wu 
The mutation pattern in protein is a very important feature and is studied through various approaches including the study on mutation pattern in domains where amino acids are converted into numbers from letters. In th...
关键词：ADRENOLEUKODYSTROPHY AMINO-ACID PAIR PREDICTABILITY MUTATION PATTERN 
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