Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201718.pdf
Reference7 articles.
1. Sathasivam S . Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 2008; 3: 9.
2. Bosch AM, Stroek K, Abeling NG, Waterham HR, Ijlst L, Wanders RJ . The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012; 7: 83.
3. Cosgrove J, Dattab S, Busby M . adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report. Clin Neurol Neurosurg 2015; 128: 1–3.
4. Alfadhel M, Benmeakel M, Hossain MA, Mutairi FA, Othaim AA, Alfares AA et al. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. Orphanet J Rare Dis 2016; 11: 126.
5. Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE et al. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 2011; 34: 159–164.
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4. Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses;Journal of Clinical Neuroscience;2020-02
5. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency;Journal of Inherited Metabolic Disease;2019-02-21
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