公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2021 | 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. | Molecular Genetics and Metabolism Reports | 4 | 4 | |
2012 | 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. | Molecular Genetics and Metabolism | 33 | 31 | |
2021 | 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. | Human Mutation | 13 | 12 | |
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 | Giugliani R.; WUH-LIANG HWU ; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A. | Genetics in Medicine | 32 | 30 | |
2019 | 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. | Molecular Genetics and Metabolism | 48 | 41 |