Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China-Reference-Cited by-同舟云学术

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Clinical, biochemical, neuroimaging and molecular findings of X-linked Adrenoleukodystrophy patients in South China

Published:2015-08-12 Issue:6 Volume:30 Page:1439-1444
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Jiang Min-yan,Cai Yan-na,Liang Cui-li,Peng Min-zhi,Sheng Hui-ying,Fan Li-ping,Lin Rui-zhu,Jiang Hua,Huang Yonglan,Liu Li

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-015-9717-6.pdf

Reference22 articles.

1. Aubourg P, Wanders R (2013) Peroxisomal disorders. Handb Clin Neurol 113:1593–1609

2. Berger J, Gärtner J (2006) X-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects. Biochim Biophys Acta 1763:1721–1732

3. Bezman L, Moser AB, Raymond GV, Rinaldo P et al (2001) Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49:512–517

4. Chiu HC, Liang JS, Wang JS, Lu JF (2006) Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy. Pediatr Neurol 35:250–256

5. Dubey P, Raymond GV, Moser AB, Kharkar S et al (2005) Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening. J Pediatr 146:528–532

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1. The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature;Cureus;2024-01-18

2. Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series;Endocrinología, Diabetes y Nutrición (English ed.);2023-06

3. Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series;Endocrinología, Diabetes y Nutrición;2022-06

4. Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature;International Journal of Endocrinology;2022-02-07

5. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype;Parkinsonism & Related Disorders;2021-11

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