追蹤
Shuan-Pei Lin
Shuan-Pei Lin
MacKay Memorial Hospital
沒有已驗證的電子郵件地址
標題
引用次數
引用次數
年份
Targeting histone deacetylase in cancer therapy
HY Lin, CS Chen, SP Lin, JR Weng, CS Chen
Medicinal research reviews 26 (4), 397-413, 2006
3242006
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
2312014
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
2252009
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
2032017
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
1812009
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
1662013
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
1622006
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
1272006
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
1162010
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
1072013
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
882005
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
791995
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
782001
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
752014
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
722016
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
702014
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
691997
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
642010
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
642007
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
641997
系統目前無法執行作業,請稍後再試。
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