Mucolipidosis II: first report from Saudi Arabia

Author:

Alfadhel Majid12,AlShehhi Wafaa1,Alshaalan Hesham32,Al Balwi Mohammed425,Eyaid Wafaa12

Affiliation:

1. Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia

2. College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia

3. Department of Medical Imaging, King Abdulaziz Medical City, Riyadh, Saudi Arabia

4. Division of Molecular Pathology and Genetics, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia

5. Medical Biotechnology, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia

Publisher

King Faisal Specialist Hospital and Research Centre

Subject

General Medicine

Reference17 articles.

1. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA;Paik KH;Human mutation,2005

2. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands;Cathey SS;Journal of medical genetics,2010

3. Mucolipidosis II (I-cell disease): present status of knowledge;Leroy JG;Birth defects original article series,1975

4. Mucolipidosis II complicated by severe pulmonary hypertension;Kovacevic A;Molecular genetics and metabolism,2011

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