Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
2021 | NAXE gene mutation-related progressive encephalopathy: A case report and literature review | Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; NI-CHUNG LEE ; Hong, Syuan-Yu; Chou, I-Ching; Lin, Chien-Lin; Yang, Pei-Yu | Medicine | 5 | 4 | |
2004 | Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility | NI-CHUNG LEE ; Chen S.-J.; Tang R.-B.; Hwang B.-T. | Journal of the Chinese Medical Association | 22 | 0 | |
2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 26 | 24 | |
2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. | Human Mutation | 287 | 257 | |
2010 | Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan | Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE ; WUH-LIANG HWU ; Lin J.-L.; Hung P.-Y.; Niu D.-M. | Journal of the Chinese Medical Association | 18 | 12 | |
2020 | Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU | Orphanet Journal of Rare Diseases | 38 | 38 | |
2010 | Newborn screening for neuropathic lysosomal storage disorders | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE | Journal of Inherited Metabolic Disease | 21 | 19 | |
2017 | Newborn screening for severe combined immunodeficiency in Taiwan | YIN-HSIU CHIEN ; HSIN-HUI YU ; NI-CHUNG LEE ; Ho H.-C.; Kao S.-M.; MENG-YAO LU ; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU | International Journal of Neonatal Screening | 38 | 0 | |
2019 | Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs | Hsu R.-H.; WUH-LIANG HWU ; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG ; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE | Pediatrics and Neonatology | 2 | 2 | |
2022 | Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy | Hsu, Rai-Hseng; NI-CHUNG LEE ; MING-TAI LIN ; TING-AN YEN ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and neonatology | 0 | 0 | |
2012 | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN ; JIA-FENG WU ; WEN-CHIN WENG ; STEVEN SHINN-FORNG PENG ; EN-TING WU ; PEI-HSIN HUANG ; WANG-TSO LEE ; I-JUNG TSAI ; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 10 | 9 | |
2021 | Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy | CHIH-LING CHEN ; CHIEN-NAN LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang T.-M.; NI-CHUNG LEE | Children | 3 | 3 | |
2021 | A novel deep intronic variant strongly associates with Alkaptonuria | Lai C.-Y.; I-JUNG TSAI ; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN ; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU ; NI-CHUNG LEE | npj Genomic Medicine | 5 | 5 | |
2012 | Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia | KAI-CHI CHANG ; PO-HAN LIN ; Su Y.-N.; STEVEN SHINN-FORNG PENG ; NI-CHUNG LEE ; HUNG-CHIEH CHOU ; CHIEN-YI CHEN ; Hsieh W.-S.; PO-NIEN TSAO | Journal of Bone and Mineral Metabolism | 14 | 12 | |
2020 | Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification | Fan S.-P.; NI-CHUNG LEE ; CHIN-HSIEN LIN | Movement Disorders | 9 | 9 | |
2020 | De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome | Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN ; Tu Y.-F.; Chou Y.-Y.; WUH-LIANG HWU ; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE | Human Mutation | 2 | 2 | |
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 | |