|1.||Schmidt, Bernhard: 2 articles (10/2003 - 05/2003)|
|2.||Dierks, Thomas: 2 articles (10/2003 - 05/2003)|
|3.||von Figura, Kurt: 2 articles (10/2003 - 05/2003)|
|4.||Roma, G: 1 article (11/2005)|
|5.||Annunziata, I: 1 article (11/2005)|
|6.||Sardiello, M: 1 article (11/2005)|
|7.||Ballabio, A: 1 article (11/2005)|
|8.||Landgrebe, Jobst: 1 article (10/2003)|
|9.||Borissenko, Ljudmila V: 1 article (05/2003)|
|10.||Mariappan, Malaiyalam: 1 article (05/2003)|
|1.||Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
05/16/2003 - "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme."
10/16/2003 - "Recently, the human C(alpha)-formylglycine (FGly)-generating enzyme (FGE), whose deficiency causes the autosomal-recessively transmitted lysosomal storage disease multiple sulfatase deficiency (MSD), has been identified. "
11/01/2005 - "Several human inherited diseases are caused by the deficiency of individual sulfatases, while in patients with multiple sulfatase deficiency mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene cause a defect in the post-translational modification of a cysteine residue into C(alpha)-formylglycine (FGly) at the active site of all sulfatases. "
05/16/2003 - "The posttranslational conversion of cysteine to C(alpha)-formylglycine in the catalytic site of mammalian sulfatases is deficient in the rare but devastating disorder multiple sulfatase deficiency (MSD). "
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)