臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	Repositories
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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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Institution	Date	Title	Author
臺大學術典藏	2022-03-28T02:45:59Z	Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R.
臺大學術典藏	2021-06-09T08:12:12Z	Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases	Kubaski F.; Herbst Z.M.; Pereira D.A.A.; Silva C.; Chen C.; WUH-LIANG HWU; van der Linden H.; Louren?o C.M.; Giugliani R.
臺大學術典藏	2020-12-16T02:25:37Z	Expert recommendations for the laboratory diagnosis of MPS VI	Wood T.; Bodamer O.A.; Burin M.G.; D'Almeida V.; Fietz M.; Giugliani R.; Hawley S.M.; Hendriksz C.J.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Mendelsohn N.J.; Miller N.; Pasquali M.; Schenone A.; Schoonderwoerd K.; Winchester B.; Harmatz P.
臺大學術典藏	2020-12-16T02:25:31Z	Diagnosing mucopolysaccharidosis IVA	Wood T.C.; Harvey K.; Beck M.; Burin M.G.; Chien Y.-H.; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.
臺大學術典藏	2020-12-16T02:25:26Z	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	Giugliani R.; WUH-LIANG HWU; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A.
臺大學術典藏	2020-12-16T02:25:08Z	Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)	Wasserstein M.;Dionisi-Vici C.;Giugliani R.;Wuh-Liang Hwu;Lidove O.;Lukacs Z.;Mengel E.;Mistry P.K.;Schuchman E.H.;Mcgovern M.; Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M.
臺大學術典藏	2020-12-16T02:25:08Z	Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)	Wasserstein M.;Dionisi-Vici C.;Giugliani R.;Wuh-Liang Hwu;Lidove O.;Lukacs Z.;Mengel E.;Mistry P.K.;Schuchman E.H.;Mcgovern M.; Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M.
臺大學術典藏	2013	Diagnosing mucopolysaccharidosis IVA	Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; Hwu W.-L.; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.

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