|1.||Braulke, Thomas: 4 articles (07/2011 - 09/2005)|
|2.||Prata, M J: 2 articles (09/2011 - 07/2009)|
|3.||Laprise, C: 2 articles (09/2011 - 03/2008)|
|4.||Coutinho, M F: 2 articles (09/2011 - 07/2009)|
|5.||Encarnação, M: 2 articles (09/2011 - 07/2009)|
|6.||Alves, S: 2 articles (09/2011 - 07/2009)|
|7.||Pohl, Sandra: 2 articles (07/2011 - 01/2010)|
|8.||Muschol, Nicole: 2 articles (01/2010 - 09/2005)|
|9.||Otomo, Takanobu: 2 articles (12/2009 - 03/2009)|
|10.||Sakai, Norio: 2 articles (12/2009 - 03/2009)|
02/10/2014 - "Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the γ subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). "
01/01/2010 - "Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics."
12/01/2009 - "Mucolipidosis II and III are progressive lysosomal storage disorders caused by a deficiency of N-acetylglucosamine-1-phosphotransferase, leading to massive accumulation of undigested substrates in lysosomes (inclusion bodies) in skin fibroblast. "
03/01/2008 - "Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population."
08/01/2006 - "Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG."
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/01/1985 - "The primary genetic defect in the lysosomal storage disease mucolipidosis III (ML III) is in the enzyme uridine diphospho-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. "
09/01/2003 - "Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes. "
|3.||Inborn Genetic Diseases (Disease, Hereditary)
|1.||Uridine Diphosphate (UDP)
|6.||Uridine Diphosphate N-Acetylglucosamine