E-LIB Suche - Ergebnisse für: Lu, Yung-Hsiu

1

Evaluate the efficacy of small molecule compounds derived f..:

Cheng, Chihya ; Lu, Yung-Hsiu ; Niu, Dau-Ming...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107054 , 2023

2

Development of a gene therapy for Fabry disease using adeno..:

Niu, Dau-Ming ; Chang, Sheng-Kai ; Lee, Ya-Ting...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S117-S118 , 2020

Link: https://doi.org/10.1016/..

3

Early detection of the irreversible cardiac damages in the ..:

Niu, Dau-Ming ; Chang, Sheng-Kai ; Hsu, Ting-Rong...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S117 , 2020

Link: https://doi.org/10.1016/..

4

Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evid..:

Cheng, Chihya ; Chu, Tzu-Hung ; Liang, Kung-Hao...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S40 , 2020

Link: https://doi.org/10.1016/..

5

The Fabry disease-causing mutation, GLA IVS4+919G>A, origin..:

Liang, Kung-Hao ; Lu, Yung-Hsiu ; Niu, Chih-Wei...
Journal of Human Genetics. 65 (2020) 7 - p. 619-625 , 2020

Link: https://doi.org/10.1038/..

6

Identification of lysosomal and extralysosomal globotriaosy..:

Hsu, Ming-Jia ; Chang, Fu-Pang ; Lu, Yung-Hsiu...
Genetics in Medicine. 21 (2019) 1 - p. 224-232 , 2019

Link: https://doi.org/10.1038/..

7

Identification of lysosomal and extralysosomal globotriaosy..:

Niu, Dau-Ming ; Hsu, Ming-Jia ; Chang, Fu-Pang...
Molecular Genetics and Metabolism. 123 (2018) 2 - p. S106 , 2018

Link: https://doi.org/10.1016/..

8

Experiences during newborn screening for glutaric aciduria ..:

Tsai, Fang-Chih ; Lee, Han-Jui ; Wang, An-Guor...
Journal of the Chinese Medical Association. 80 (2017) 4 - p. 253-261 , 2017

Link: https://doi.org/10.1016/..

9

Improvement in the sensitivity of newborn screening for Fab..:

Lu, Yung-Hsiu ; Huang, Po-Hsun ; Wang, Li-Yun...
Journal of Human Genetics. 63 (2017) 1 - p. 1-8 , 2017

Link: https://doi.org/10.1038/..

10

Reevaluate current routine histopathologic examinations for..:

Niu, Dau-Ming ; Chang, Fu-Pang ; Hsu, Ming-Jia...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S103 , 2017

Link: https://doi.org/10.1016/..

11

Homozygosity Mapping and Whole-Genome Sequencing Links a Mi..:

Wang, Nana Hsiang-Hua ; Chen, Shih-Jen ; Yang, Chi-Fan...
Investigative Opthalmology & Visual Science. 57 (2016) 8 - p. 3601 , 2016

Link: https://doi.org/10.1167/..

12

Heterozygous carriers of classical homocystinuria tend to h..:

Lu, Yung-Hsiu ; Cheng, Li-Mei ; Huang, Yu-Hsiu...
Clinical Nutrition. 34 (2015) 6 - p. 1155-1158 , 2015

Link: https://doi.org/10.1016/..

13

Clinical observations and treatment of pediatric homozygous..:

Huang, Cheng-Hung ; Chiu, Pao-Chin ; Liu, Hao-Chuan...
Journal of Clinical Lipidology. 9 (2015) 2 - p. 234-240 , 2015

Link: https://doi.org/10.1016/..

14

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable..:

Liu, Hao-Chuan ; Lin, Hsiang-Yu ; Yang, Chia-Feng...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

15

Misdiagnosis as steatohepatitis in a family with mild glyco..:

Shieh, Jeng-Jer ; Lu, Yung-Hsiu ; Huang, Shi-Wei...
Gene. 509 (2012) 1 - p. 154-157 , 2012

Link: https://doi.org/10.1016/..