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Volume 3, Issue 4 (11-2017)
IJCA 2017, 3(4): 29-31 |
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Afsharkhas L, Karimzadeh P, Hajizadeh Saffar F, Sajadi N, Ghaemi H. A 7-year-old boy with progressive developmental regression: A case of Sanfilippo disease. IJCA 2017; 3 (4) :29-31
URL: http://ijca.iums.ac.ir/article-1-122-en.html
URL: http://ijca.iums.ac.ir/article-1-122-en.html
Ali‐Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.
Abstract: (1684 Views)
We present the case of a 7-year-old boy with a history of aggressive behavior, speech delay and progressive neurodevelopmental regression. Mucopolysaccharidosis was suspected based on skeletal and behavioral symptoms and confirmed by whole exome sequencing.
Type of Study: Original Research |
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