Table 1.
Historical aspect of Morquio A syndrome.
| Year | Description | Reference |
|---|---|---|
| 1929 | First description of Morquio A patients in Uruguay and England |
Brailsford, 1929; Morquio, 1929 |
| 1962 | Isolation and identification of Keratosulfaturia |
Pedrini et al., 1962 |
| 1971 | Intermediate type of Morquio A patient | Orii et al., 1971 |
| 1976 | Identification of defective enzyme in Morquio A |
Dorfman et al., 1976 |
| 1978 | Assay method of N-acetyl-galactosamine-6-sulfate sulfatase |
Glossl and Kresse, 1978 |
| 1978 | Defect of galactosamine-6-sulfate sulfatase |
Di Ferrante et al., 1978 |
| 1981 | Mild type of Morquio A patients | Orii et al., 1981 |
| 1991 | Purification of GALNS and preparation of the antibody |
Bielicki and Hopwood, 1991; Masue et al., 1991 |
| 1991 | Cloning of human cDNA | Tomatsu et al., 1991 |
| 1992 | First identification of mutations in classical and mild types |
Fukuda et al., 1992 |
| 1992 | Chromosomal localization | Tomatsu et al., 1992 |
| 1994 | Cloning of human genomic gene | Nakashima et al., 1994 |
| 1995 | Common mutation | Tomatsu et al., 1995a |
| 1998 | Establishment of International Morquio Registry |
Montano et al., 2007 |
| 2000 | Cloning of mouse gene | Montano et al., 2000 |
| 2000 | Tertiary structure of GALNS | Sukegawa et al., 2000 |
| 2001 | Retroviral gene therapy in vitro | Toietta et al., 2001 |
| 2003 | Morquio A murine model | Tomatsu et al., 2003 |
| 2004 | KS assay by ELISA | Tomatsu et al., 2004 |
| 2005 | Educational CD for Morquio | Carol Ann Foundation |
| 2005 | Mutation update | Tomatsu et al., 2005 |
| 2007 | Recombinant human GALNS produced in CHO |
Tomatsu et al., 2007 |
| 2007 | KS assay by tandem mass spectrometry | Oguma et al., 2007 |
| 2007 | Description of International Morquio Registry |
Montano et al., 2007 |
| 2008 | ERT on adult Morquio A KO mouse | Tomatsu et al., 2008 |
| 2008 | Growth chart of Morquio A patients | Montano et al., 2008 |
| 2010 | ERT with bone-targeting on Morquio A mouse |
Tomatsu et al., 2010 |
| 2010 | AAV gene therapy in vivo | Almeciga-Diaz et al., 2010 |
| 2013 | Autopsied case report | Yasuda et al., 2013 |
| 2014 | Approval of enzyme replacement therapy in human |
Hendriksz et al., 2014 |
| 2014 | Case report of successful hematopietic stem cell therapy |
Chinen et al., 2014 |
| 2014 | C6S assay by tandem mass spectrometry | Shimada et al., 2014 |
| 2015 | Assessment of tracheal obstruction | Tomatsu et al., 2015 |
| 2016 | Successful surgical intervention for tracheal obstruction |
Pizarro et al., 2016 |