公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2002 | Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant | YIN-HSIU CHIEN ; Chu S.-Y.; Hsu C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 15 | 14 | |
2014 | Parental discussion of G6PD deficiency and child health: Implications for clinical practice | Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Archives of Disease in Childhood | 1 | 1 | |
2005 | Parkin mutations and early-onset parkinsonism in a Taiwanese cohort | RUEY-MEEI WU ; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chen J.; Gwinn-Hardy K.; Farrer M. | Archives of Neurology | 66 | 58 | |
2004 | Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case | WUH-LIANG HWU ; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN ; Chu S.-Y. | Acta Paediatrica Taiwanica | 3 | 0 | |
2018 | Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease | Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU ; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE ; Chiou L.-Y.; YIN-HSIU CHIEN | International Journal of Neonatal Screening | 15 | 0 | |
2003 | Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese | Huang Y.-T.; YIN-HSIU CHIEN ; Yeh H.-Y.; Lin S.-J.; FRANK LEIGH LU ; Chou S.-P.; Lin J.-M.; Chiang S.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 2 | 1 | |
2010 | Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome | Chen-Chi Wu ; Lu Y.-C.; PEI-JER CHEN ; Yeh P.-L.; Su Y.-N.; WUH-LIANG HWU ; Hsu C.-J. | Audiology and Neurotology | 62 | 56 | |
2004 | Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Wang T.-R.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 4 | 0 | |
2023 | A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7 | Lee, Chee-Seng; YEN-HSUAN NI ; HUEY-LING CHEN ; JIA-FENG WU ; HONG-YUAN HSU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; WUH-LIANG HWU ; TING-AN YEN ; Chua, Huey-Huey; Chen, Yu-Ju; Wang, Yu-Lin; MEI-HWEI CHANG | Journal of pediatric gastroenterology and nutrition | 6 | 3 | |
2021 | A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease | Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin C.-Y.; YIN-HSIU CHIEN | Scientific Reports | 1 | 1 | |
2015 | Pincer nail deformity as the main manifestation of Clouston syndrome | Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU ; Lee Y.-M. | British Journal of Dermatology | 7 | 7 | |
2005 | Plasma chitotriosidase activity and malaria (multiple letters) | YIN-HSIU CHIEN ; JEN-HAU CHEN ; WUH-LIANG HWU ; Musumeci S. | Clinica Chimica Acta | 15 | 18 | |
2009 | Pompe disease in infants: Improving the prognosis by newborn screening and early treatment | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU ; PEI-HSIN HUANG ; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU | Pediatrics | 182 | 160 | |
2013 | Pompe disease: Early diagnosis and early treatment make a difference | YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 129 | 107 | |
2004 | Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan | YIN-HSIU CHIEN ; Hsu C.-C.; Huang A.; Chou S.-P.; FRANK LEIGH LU ; WANG-TSO LEE ; WUH-LIANG HWU | Journal of Child Neurology | 37 | 30 | |
1991 | Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case. | WUH-LIANG HWU ; WEN-YU TSAI ; Lee J.S.; Wang P.J.; Wang T.R. | Acta Paediatrica Sinica | 3 | 0 | |
2011 | Preimplantation and prenatal genetic diagnosis of aromatic L-amino aciddecarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction | Kuo S.-J.; Ma G.-C.; Chang S.-P.; Wu H.-H.; Chen C.-P.; Chang T.-M.; Lin W.-H.; Wu S.-H.; Lee M.-H.; WUH-LIANG HWU ; Chen M. | Taiwanese Journal of Obstetrics and Gynecology | 12 | 12 | |
2007 | Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome) | Chen C.-P.; Lin S.-P.; Tzen C.-Y.; WUH-LIANG HWU ; Chern S.-R.; Chuang C.-K.; Chiang S.-S.; Wang W. | Genetic Counseling | 8 | 6 | |
2017 | Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening | YIN-HSIU CHIEN ; Chiang S.-C.; WEN-CHIN WENG ; NI-CHUNG LEE ; Lin C.-J.; Hsieh W.-S.; WANG-TSO LEE ; Jong Y.-J.; TSANG-MING KO ; WUH-LIANG HWU | Journal of Pediatrics | 115 | 91 | |
2005 | Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype | Tzeng C.-C.; Tsai L.-P.; WUH-LIANG HWU ; Lin S.-J.; Chao M.-C.; Jong Y.-J.; Chu S.-Y.; Chao W.-C.; Lu C.-L. | American Journal of Medical Genetics | 56 | 51 |