|1.||Mononen, I: 3 articles (06/2009 - 02/2000)|
|2.||Jalanko, Anu: 3 articles (06/2006 - 06/2003)|
|3.||Kelo, Eira: 2 articles (10/2010 - 01/2005)|
|4.||Mononen, Ilkka: 2 articles (10/2010 - 01/2005)|
|5.||Dunder, Ulla: 2 articles (10/2010 - 01/2005)|
|6.||Laine, Minna: 2 articles (06/2006 - 06/2003)|
|7.||Dunder, U: 2 articles (06/2001 - 02/2000)|
|8.||Haas, Dorothea: 1 article (01/2014)|
|9.||Bürger, Friederike: 1 article (01/2014)|
|10.||Harting, Inga: 1 article (01/2014)|
01/01/2014 - "Biochemical investigations suggested aspartylglucosaminuria, and a novel homozygous mutation c.439T>C (p.S147P) was found in the aspartylglucosaminidase gene. "
01/01/2014 - "Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family."
07/01/2008 - "Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal disease caused by deficiency of aspartylglucosaminidase. "
01/01/2005 - "Aspartylglycosaminuria (AGU) is caused by deficient enzymatic activity of glycosylasparaginase (GA). "
10/01/2004 - "A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase."
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
06/01/2006 - "Aspartylglucosaminuria (AGU) is a lysosomal storage disease with severe neurodegenerative clinical features resulting from the deficiency of lysosomal aspartylglucosaminidase (AGA). "
04/15/2001 - "A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). "
10/01/1998 - "Aspartylglucosaminuria (AGU) is a neurodegenerative lysosomal storage disease that is caused by mutations in the gene encoding for a soluble hydrolase, aspartylglucosaminidase (AGA). "
03/01/1997 - "Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficiency of aspartylglucosaminidase. "
06/01/1996 - "Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of aspartylglucosaminidase (AGA). "
|3.||Mental Retardation (Idiocy)
08/01/1999 - "The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. "
10/01/2010 - "Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. "
10/01/1998 - "Aspartylglucosaminuria (AGU) is a lysosomal storage disease leading to mental retardation, which is caused by deficiency of aspartylglucosaminidase (AGA). "
12/01/1998 - "Glycosylasparaginase as a marker enzyme in the detection of I-cell disease."
11/16/1987 - "A mixture of sialylglycoasparagines and sialylglycopeptides was successively incubated with lysosomal extracts, at two pH values, first at pH 7.5 and then at pH 4. The 1H-NMR analysis of the sialyloligosaccharides released during the enzymatic digestion demonstrates the sequential action of aspartylglucosaminidase and an endo-N-acetyl-beta-D-glucosaminidase which release sialyloligosaccharides identical to the reference sugars isolated from the urine of patients suffering from sialidosis. "
|5.||Congenital Disorders of Glycosylation
|5.||RNA Splice Sites
|7.||Tyrosine 3-Monooxygenase (Tyrosine Hydroxylase)
|10.||LDL Receptors (LDL Receptor)