公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2020 | The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan | Chiang S.-C.; YIN-HSIU CHIEN ; Chang K.-L.; NI-CHUNG LEE ; WUH-LIANG HWU | International Journal of Neonatal Screening | 1 | 1 | |
2008 | Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease | Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU ; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Paediatric Anaesthesia | 5 | 6 | |
2008 | Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug | SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; MEI-HWAN WU ; JOU-KOU WANG ; SHYH-JYE CHEN | Journal of Pediatrics | 12 | 10 | |
2001 | Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations | YIN-HSIU CHIEN ; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU ; Chou S.-P.; Chu S.-Y.; Wang T.-R.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 32 | 20 | |
2014 | Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector | NI-CHUNG LEE ; YIN-HSIU CHIEN ; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN ; Byrne B.J.; WUH-LIANG HWU | Human Gene Therapy | 15 | 15 | |
2007 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | YIN-HSIU CHIEN ; NI-CHUNG LEE ; LI-KAI TSAI ; Huang A.C.; STEVEN SHINN-FORNG PENG ; SHYH-JYE CHEN ; WUH-LIANG HWU | Journal of inherited metabolic disease | 43 | 36 | |
2020 | Turner syndrome and cardiovascular anomalies: Care for girls and women | Chiu H.-H.; YIN-HSIU CHIEN | Pediatrics and Neonatology | 0 | 0 | |
2024 | Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights | HUI-AN CHEN ; Hsu, Rai Hseng; Chen, Li Chu; NI-CHUNG LEE ; Chiu, Pao Chin; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | | | |
2014 | Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan | Chiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN ; Hsiao K.-J.; Liu T.-T. | Biochemical Genetics | 14 | 13 | |
2005 | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation | CHUN-AN CHEN ; Tang N.L.S.; YIN-HSIU CHIEN ; Zhang W.-M.; JOU-KOU WANG ; WUH-LIANG HWU | BMC Medical Genetics | 3 | 3 | |
1999 | Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one case | YIN-HSIU CHIEN ; PING-ING LEE ; LI-MIN HUANG ; CHIN-YUN LEE ; DONG-TSAMN LIN ; KAI-HSIN LIN | Acta Paediatrica Taiwanica | 10 | 0 | |
2020 | Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice | NI-CHUNG LEE ; Peng W.-H.; LI-KAI TSAI ; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU ; Tseng W.-Y.I.; YIN-HSIU CHIEN | Scientific Reports | 2 | 2 | |
2023 | Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population | Hsu, Rai-Hseng; Lee, Chen-Hao; YIN-HSIU CHIEN ; Lin, Shuan-Pei; Hung, Miao-Zi; Chen, Nai-Chi; Lin, Yi-Lin; WUH-LIANG HWU ; NI-CHUNG LEE | Molecular genetics & genomic medicine | 0 | 0 | |
2014 | The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients | Feeney E.J.; Austin S.; YIN-HSIU CHIEN ; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU ; Ralston E.; Kishnani P.S.; Raben N. | Acta Neuropathologica Communications | 48 | 46 | |
2005 | Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism | HSIANG-PO HUANG ; YIN-HSIU CHIEN ; LI-MIN HUANG ; YEN-HSUAN NI ; MEI-HWEI CHANG ; MING-CHIH HO ; PO-HUANG LEE ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 12 | 11 | |
2008 | Web Services based newborn screening system with Support Vector Machines | Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; YIN-HSIU CHIEN ; Wang Z.; Chen P.-H.; Chang H.-Y.; FEI-PEI LAI ; WUH-LIANG HWU | 5th International Conference on Information Technology and Applications, ICITA 2008 | 1 | | |
2013 | Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians | Chen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; FEI-PEI LAI | Journal of Medical Internet Research | 16 | 13 | |
2005 | Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case report | Ma Y.-C.; Shyur S.-D.; Ho T.-Y.; Huang L.-H.; Wu J.-Y.; Liang D.-C.; YIN-HSIU CHIEN | Journal of Microbiology, Immunology and Infection | 4 | 0 | |
2015 | X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patients | Tsai H.-Y.; HSIN-HUI YU ; YIN-HSIU CHIEN ; Chu K.-H.; Lau Y.-L.; JYH-HONG LEE ; LI-CHIEH WANG ; BOR-LUEN CHIANG ; YAO-HSU YANG | Journal of Microbiology, Immunology and Infection | 25 | 20 | |
2009 | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males | Chen S.-T.; HUEY-LING CHEN ; YEN-HSUAN NI ; YIN-HSIU CHIEN ; YUNG-MING JENG ; MEI-HWEI CHANG ; WUH-LIANG HWU | Pediatrics and Neonatology | 5 | 4 | |