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Chiu, Pao-Chin
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1

Twelve-year review of galactosemia newborn screening in Tai..:

Chen, Hui-An ; Hsu, Rai-Hseng ; Chen, Li-Chu...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101048 , 2024
Link: https://doi.org/10.1016/..
 
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2

Navigating the Diagnostic Journey in Pediatric Gastroentero..:

Kek, Ho-Poh ; Tsai, Wan-Long ; Chiu, Pao-Chin..
Children.  11 (2024)  3 - p. 285 , 2024
Link: https://doi.org/10.3390/..
 
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3

Syndromic ciliopathy: a taiwanese single-center study:

Pan, Yu-Wen ; Ou, Tsung-Ying ; Chou, Yen-Yin...
BMC Medical Genomics.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Genotype-phenotype correlation in Taiwanese children with d..:

Lee, Cheng-Ting ; Tsai, Wen-Hao ; Chang, Chien-Ching...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

High incidence of null variants identified from newborn scr..:

Chen, Hui-An ; Hsu, Rai-Hseng ; Chen, Pin-Wen...
Molecular Genetics and Metabolism Reports.  32 (2022)  - p. 100902 , 2022
Link: https://doi.org/10.1016/..
 
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6

Improved diagnosis of citrin deficiency by newborn screenin..:

Chen, Hui-An ; Hsu, Rai-Hseng ; Chen, Yu-Han...
Molecular Genetics and Metabolism.  136 (2022)  4 - p. 330-336 , 2022
Link: https://doi.org/10.1016/..
 
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7

Epigenotype, Genotype, and Phenotype Analysis of Taiwanese ..:

Lin, Hsiang-Yu ; Lee, Chung-Lin ; Fran, Sisca...
Journal of Personalized Medicine.  11 (2021)  11 - p. 1197 , 2021
Link: https://doi.org/10.3390/..
 
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8

A novel deep intronic variant strongly associates with Alka..:

Lai, Chien-Yi ; Tsai, I-Jung ; Chiu, Pao-Chin...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

Earlier and higher dosing of alglucosidase alfa improve out..:

Chien, Yin-Hsiu ; Tsai, Wen-Hui ; Chang, Chaw-Liang...
Molecular Genetics and Metabolism Reports.  23 (2020)  - p. 100591 , 2020
Link: https://doi.org/10.1016/..
 
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10

Newborn screening for Morquio syndrome: Results from the 8-..:

Chien, Yin-Hsiu ; Hwu, Wuh-Liang ; Chen, Pin-Wen...
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S40-S41 , 2020
Link: https://doi.org/10.1016/..
 
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11

Newborn screening for Morquio disease and other lysosomal s..:

Chien, Yin-Hsiu ; Lee, Ni-Chung ; Chen, Pin-Wen...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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12

Congenital generalized lipodystrophy in Taiwan:

Hsu, Rai-Hseng ; Lin, Wei-De ; Chao, Mei-Chyn...
Journal of the Formosan Medical Association.  118 (2019)  1 - p. 142-147 , 2019
Link: https://doi.org/10.1016/..
 
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13

Albuterol as an adjunctive treatment to enzyme replacement ..:

Chien, Yin-Hsiu ; Hwu, Wuh-Liang ; Lee, Ni-Chung...
Molecular Genetics and Metabolism Reports.  11 (2017)  - p. 31-35 , 2017
Link: https://doi.org/10.1016/..
 
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14

Clinical characteristics and long-term outcome of Taiwanese..:

Lee, Cheng-Ting ; Liu, Shih-Yao ; Tung, Yi-Ching...
Journal of the Formosan Medical Association.  115 (2016)  5 - p. 306-310 , 2016
Link: https://doi.org/10.1016/..
 
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15

3-O-methyldopa levels in newborns: Result of newborn screen..:

Chien, Yin-Hsiu ; Chen, Pin-Wen ; Lee, Ni-Chung...
Molecular Genetics and Metabolism.  118 (2016)  4 - p. 259-263 , 2016
Link: https://doi.org/10.1016/..
 
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