公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2017 | Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency | McGovern M.M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU ; Lidove O.; Lukacs Z.; Eugen Mengel K.; Mistry P.K.; Schuchman E.H.; Wasserstein M.P. | Genetics in Medicine | 64 | 57 | |
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.; WUH-LIANG HWU ; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J. | Journal of Inherited Metabolic Disease | 74 | 71 | |
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 | |
2010 | Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry | Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. | Clinica Chimica Acta | 47 | 41 | |
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 | |
2011 | The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives | Reuser A.J.; Verheijen F.W.; Bali D.; van Diggelen O.P.; Germain D.P.; WUH-LIANG HWU ; Lukacs Z.; M?hl A.; Olivova P.; Piraud M.; Wuyts B.; Zhang K.; Keutzer J. | Molecular Genetics and Metabolism | 68 | 62 |