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Literature DB >> 31970225

X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia.

Vinícius Boaratti Ciarlariello¹, Júlian Letícia de Freitas¹, José Luiz Pedroso¹, Orlando G P Barsottini¹.

Abstract

Entities: Disease

Keywords: genetics; hereditary spastic paraplegia; peroxisomal disorders; adrenoleukodystrophy; very long chain fatty acids

Year: 2019 PMID： 31970225 PMCID： PMC6962678 DOI： 10.1002/mdc3.12858

Source DB: PubMed Journal: Mov Disord Clin Pract ISSN： 2330-1619

× No keyword cloud information.

5 in total

1. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Authors: Aryun Kim; Kishore R Kumar; Ryan L Davis; Amali C Mallawaarachchi; Velimir Gayevskiy; Andre E Minoche; Zachary Walls; Han-Joon Kim; Mihee Jang; Mark J Cowley; Ji-Hyun Choi; Chaewon Shin; Carolyn M Sue; Beomseok Jeon
Journal: Cerebellum Date: 2019-08 Impact factor: 3.847

Review 2. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

Authors: Stephan Kemp; Johannes Berger; Patrick Aubourg
Journal: Biochim Biophys Acta Date: 2012-03-28

3. Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.

Authors: Zi-Xiong Zhan; Xin-Xin Liao; Juan Du; Ying-Ying Luo; Zhao-Ting Hu; Jun-Ling Wang; Xin-Xiang Yan; Jian-Guo Zhang; Mei-Zhi Dai; Peng Zhang; Kun Xia; Bei-Sha Tang; Lu Shen
Journal: Eur J Med Genet Date: 2013-05-09 Impact factor: 2.708

4. X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis.

Authors: T Maris; E J Androulidakis; M Tzagournissakis; S Papavassiliou; H Moser; A Plaitakis
Journal: Neurology Date: 1995-06 Impact factor: 9.910

Review 5. X-linked adrenoleukodystrophy.

Authors: Hugo W Moser; Asif Mahmood; Gerald V Raymond
Journal: Nat Clin Pract Neurol Date: 2007-03

5 in total

3 in total

X-Linked Adrenoleukodystrophy Mimicking Hereditary Spastic Paraplegia.

1. Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.

Review 2. X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

3. Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.

4. X-linked adrenoleukodystrophy presenting as neurologically pure familial spastic paraparesis.

Review 5. X-linked adrenoleukodystrophy.

Review 1. Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

Review 2. Diagnostic approach in adult-onset neurometabolic diseases.

Review 3. Childhood-onset hereditary spastic paraplegia and its treatable mimics.