Mucolipidosis II: first report from Saudi Arabia
BACKGROUND AND OBJECTIVES: Mucolipidosis II (MLII) is characterized by severe global developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. It is caused by a deficiency in N-acetylglucosamine-1 phosphotransferase. DESIGN AND SETTINGS: This is a case series...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
King Faisal Specialist Hospital and Research Centre
2013-07-01
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| Series: | Annals of Saudi Medicine |
| Online Access: | https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2013.382 |