Alpha-fucosidosis – Two brothers presenting with dysostosis multiplex
α-Fucosidosis is a rare inherited neuro-degenerative disorder causing progressive neurological deterioration leading to early death. Definitive diagnosis requires α-fucosidase enzyme assay or FUCA1 gene testing, which being expensive limits the definitive diagnosis in resource limited countries. We...
Main Authors: | Rimshah Shaukat, Syed Musa Raza, Zabedah Md. Yuns, Affandi Omar, Bushra Afroze |
---|---|
Format: | Article |
Language: | English |
Published: |
SpringerOpen
2016-07-01
|
Series: | Egyptian Journal of Medical Human Genetics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863015001238 |
Similar Items
-
Fucosidosis with Dystonia
by: J Gordon Millichap
Published: (1996-01-01) -
Ocular findings in a patient with fucosidosis
by: Lucía Rivera Sánchez, et al.
Published: (2016-12-01) -
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme
by: Latifa Chkioua, et al.
Published: (2021-08-01) -
Mandibulofacial dysostosis
by: Hein Els, et al.
Published: (2012-02-01) -
Nager′s acrofacial dysostosis
by: Arpita Rai, et al.
Published: (2013-01-01)