Alpha-fucosidosis-Two brothers presenting with dysostosis multiplex
Joint Authors
Afroze, Bushra
Shawkat, Rimshah
Rida, Sayyid Musa
Yunus, Zubaydah Md.
Afandi, Umar
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 3 (31 Jul. 2016), pp.243-246, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
a-Fucosidosis is a rare inherited neuro-degenerative disorder causing progressive neurological deterioration leading to early death.
Definitive diagnosis requires a-fucosidase enzyme assay or FUCA1 gene testing, which being expensive limits the definitive diagnosis in resource limited countries.
We present two siblings with classic symptoms, radiological and MRI brain findings suggestive of a-fucosidosis and a clinical approach to reach to the diagnosis
American Psychological Association (APA)
Shawkat, Rimshah& Rida, Sayyid Musa& Yunus, Zubaydah Md.& Afandi, Umar& Afroze, Bushra. 2016. Alpha-fucosidosis-Two brothers presenting with dysostosis multiplex. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 3, pp.243-246.
https://search.emarefa.net/detail/BIM-733806
Modern Language Association (MLA)
Shawkat, Rimshah…[et al.]. Alpha-fucosidosis-Two brothers presenting with dysostosis multiplex. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 3 (Jul. 2016), pp.243-246.
https://search.emarefa.net/detail/BIM-733806
American Medical Association (AMA)
Shawkat, Rimshah& Rida, Sayyid Musa& Yunus, Zubaydah Md.& Afandi, Umar& Afroze, Bushra. Alpha-fucosidosis-Two brothers presenting with dysostosis multiplex. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 3, pp.243-246.
https://search.emarefa.net/detail/BIM-733806
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 246
Record ID
BIM-733806