| 臺大學術典藏 |
2022-05-17T06:03:52Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome
|
Ou, Tsung Ying; Tsai, Meng Che; Kuo, Pao Lin; NI-CHUNG LEE; Chou, Yen Yin |
| 臺大學術典藏 |
2022-05-14T23:35:27Z |
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
|
Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; CHENG-TING LEE |
| 臺大學術典藏 |
2022-04-14T23:27:42Z |
A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
|
Lin, I. Ting; NI-CHUNG LEE; Fan, Sung Pin; Huang, Chang Jin; Cheng, Po Wei; JYH-HORNG CHEN; CHIN-HSIEN LIN |
| 臺大學術典藏 |
2022-03-10T06:22:49Z |
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; Hwu, Wuh-Liang; Chien, Yin-Hsiu |
| 臺大學術典藏 |
2022-03-10T06:14:07Z |
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai, Meng-Ju Melody; NI-CHUNG LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching |
| 臺大學術典藏 |
2022-03-10T06:09:56Z |
UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis
|
Liao, Chun-Hua; NI-CHUNG LEE; Jou, Shiann-Tarng; Chiang, Bor-Luen; Yu, Hsin-Hui |
| 臺大學術典藏 |
2022-03-10T05:58:53Z |
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
|
Su, Tzu-Hsuan; NI-CHUNG LEE; Wu, Chao-Szu; Peng, Steven Shinn-Forng; Fan, Pi-Chuan |
| 臺大學術典藏 |
2022-03-10T05:40:48Z |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity
|
Li, Jeng-Lin; NI-CHUNG LEE; Chen, Pin-Shiuan; Lee, Gin Hoong; Wu, Ruey-Meei |
