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| 臺大學術典藏 |
2021-09-14T23:19:08Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
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Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; YIN-HSIU CHIEN; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C.; Lin, Hsiang Yu; Lin, Shuan Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella |
| 國立臺灣大學 |
2014 |
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
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Giugliani, Roberto; Hwu, Wuh-Liang; Tylki-Szymanska, Anna; Whiteman, David A. H.; Pano, Arian; 胡務亮 |
| 國立臺灣大學 |
2013 |
Diagnosing mucopolysaccharidosis IVA
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Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J.; D' Almeida, Vania; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N.; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J.; 胡務亮; 簡穎秀 |
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