Targeting histone deacetylase in cancer therapy HY Lin, CS Chen, SP Lin, JR Weng, CS Chen Medicinal research reviews 26 (4), 397-413, 2006 | 324 | 2006 |
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study CJ Hendriksz, B Burton, TR Fleming, P Harmatz, D Hughes, SA Jones, ... Journal of inherited metabolic disease 37, 979-990, 2014 | 231 | 2014 |
Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004 HY Lin, SP Lin, CK Chuang, DM Niu, MR Chen, FJ Tsai, MC Chao, ... American journal of medical genetics Part A 149 (5), 960-964, 2009 | 225 | 2009 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 203 | 2017 |
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) SA Jones, Z Almássy, M Beck, K Burt, JT Clarke, R Giugliani, C Hendriksz, ... Journal of inherited metabolic disease 32, 534-543, 2009 | 181 | 2009 |
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects P Harmatz, KE Mengel, R Giugliani, V Valayannopoulos, SP Lin, R Parini, ... Molecular Genetics and Metabolism 109 (1), 54-61, 2013 | 166 | 2013 |
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004 HY Lin, SP Lin, YJ Chen, HY Hung, HA Kao, CH Hsu, MR Chen, ... American journal of medical genetics Part A 140 (9), 945-951, 2006 | 162 | 2006 |
Clinical features of Ehlers-Danlos syndrome JL Yen, SP Lin, MR Chen, DM Niu Journal of the Formosan Medical Association 105 (6), 475-480, 2006 | 127 | 2006 |
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria MY Liu, YL Yang, YC Chang, SH Chiang, SP Lin, LS Han, Y Qi, KJ Hsiao, ... Journal of human genetics 55 (9), 621-626, 2010 | 116 | 2010 |
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan SP Lin, HY Lin, TJ Wang, CY Chang, CH Lin, SF Huang, CC Tsai, HL Liu, ... Orphanet journal of rare diseases 8, 1-8, 2013 | 107 | 2013 |
Free amino acids in full-term and pre-term human milk and infant formula CK Chuang, SP Lin, HC Lee, TJ Wang, YS Shih, FY Huang, CY Yeung Journal of pediatric gastroenterology and nutrition 40 (4), 496-500, 2005 | 88 | 2005 |
Molecular basis of spinal muscular atrophy in Chinese. JG Chang, YJ Jong, JM Huang, WS Wang, TY Yang, CP Chang, YJ Chen, ... American journal of human genetics 57 (6), 1503, 1995 | 79 | 1995 |
Tubulointerstitial nephritis associated with a novel mitochondrial point mutation CY Tzen, JD Tsai, TY Wu, BF Chen, ML Chen, SP Lin, SC Chen Kidney international 59 (3), 846-854, 2001 | 78 | 2001 |
Characterization of pulmonary function impairments in patients with mucopolysaccharidoses—changes with age and treatment SP Lin, SC Shih, CK Chuang, KS Lee, MR Chen, DM Niu, PC Chiu, SJ Lin, ... Pediatric Pulmonology 49 (3), 277-284, 2014 | 75 | 2014 |
3-O-methyldopa levels in newborns: result of newborn screening for aromatic l-amino-acid decarboxylase deficiency YH Chien, PW Chen, NC Lee, WS Hsieh, PC Chiu, WL Hwu, FJ Tsai, ... Molecular genetics and metabolism 118 (4), 259-263, 2016 | 72 | 2016 |
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses CK Chuang, HY Lin, TJ Wang, CC Tsai, HL Liu, SP Lin Orphanet journal of rare diseases 9, 1-10, 2014 | 70 | 2014 |
Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR) HH Lee, JG Chang, SP Lin, HT Chao, ML Yang, HT Ng Human genetics 99, 364-367, 1997 | 69 | 1997 |
Polysomnographic characteristics in patients with mucopolysaccharidoses HY Lin, MR Chen, CC Lin, CP Chen, DS Lin, CK Chuang, DM Niu, ... Pediatric pulmonology 45 (12), 1205-1212, 2010 | 64 | 2010 |
Polysomnographic characteristics in patients with Prader–Willi syndrome HY Lin, SP Lin, CC Lin, LP Tsai, MR Chen, CK Chuang, CY Huang Pediatric pulmonology 42 (10), 881-887, 2007 | 64 | 2007 |
Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients DS Lin, FY Huang, SP Lin, MR Chen, HA Kao, HY Hung, CH Hsu American journal of medical genetics 71 (2), 215-218, 1997 | 64 | 1997 |