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...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, AlShehhi, Wafaa, Alshaalan, Hesham, Al Balwi, Mohammed, Eyaid, Wafaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2013
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078501/
https://www.ncbi.nlm.nih.gov/pubmed/24060719
http://dx.doi.org/10.5144/0256-4947.2013.382

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078501/
https://www.ncbi.nlm.nih.gov/pubmed/24060719
http://dx.doi.org/10.5144/0256-4947.2013.382

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