公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2023 | Occurrence of sotos syndrome and coffin-siris syndrome in a family | HUI-AN CHEN ; Chen, Nai-Qi; Hsu, Rai-Hseng; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
1996 | Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. | Tsai L.P.; Sue W.C.; WUH-LIANG HWU ; KAI-HSIN LIN ; Wang T.R. | Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui | 7 | 0 | |
2019 | Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses | Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU ; Chuang C.-K.; Lin S.-P. | Molecular Genetics and Genomic Medicine | 10 | 11 | |
1997 | Ornithine transcarbamylase deficiency | Yeh S.-J.; WUH-LIANG HWU ; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R. | Journal of the Formosan Medical Association | 2 | 3 | |
2014 | Outcome of early-treated type III Gaucher disease patients | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; STEVEN SHINN-FORNG PENG ; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN ; WUH-LIANG HWU | Blood Cells, Molecules, and Diseases | 22 | 18 | |
2022 | Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening | NI-CHUNG LEE ; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG HWU ; YIN-HSIU CHIEN | The Journal of pediatrics | 7 | 3 | |
2007 | Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort | CHING-CHIA WANG ; WUH-LIANG HWU ; EN-TING WU ; FRANK LEIGH LU ; JOU-KOU WANG ; MEI-HWAN WU | Acta Paediatrica, International Journal of Paediatrics | 25 | 20 | |
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 | |