Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency

por Hsu, Rai-Hseng, Lee, Ni-Chung, Chen, Hui-An, Hwu, Wuh-Liang, Chang, Tung-Ming, Chien, Yin-Hsiu
Publicado 2023

Aromatic l‐amino acid decarboxylase deficiency in Taiwan

por Hwu, Wuh‐Liang, Hsu, Rai‐Hseng, Li, Mei‐Hsin, Lee, Hui‐Min, Chen, Hui‐An, Lee, Ni‐Chung, Chien, Yin‐Hsiu
Publicado 2023

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan

por Chen, Hui-An, Hsu, Rai-Hseng, Chen, Pin-Wen, Lee, Ni-Chung, Chiu, Pao-Chin, Hwu, Wuh-Liang, Chien, Yin-Hsiu
Publicado 2022

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

por Hsu, Rai-Hseng, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chang, I-Fan, Ho, Hui-Chen, Chou, Shi-Ping, Huang, Tzu-Ming, Lee, Ni-Chung
Publicado 2019

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia

por Hsu, Rai‐Hseng, Chen, Hui‐An, Chien, Yin‐Hsiu, Hwu, Wuh‐Liang, Lin, Ju‐Li, Weng, Hui‐Ling, Lin, Yi‐Ting, Lin, Yu‐Ching, Lee, Ni‐Chung
Publicado 2023

Asymptomatic ASS1 carriers with high blood citrulline levels

por Chen, Hui‐An, Hsu, Rai‐Hseng, Chang, Kai‐Ling, Huang, Yi‐Chen, Chiang, Yun‐Chen, Lee, Ni‐Chung, Hwu, Wuh‐Liang, Chiu, Pao‐Chin, Chien, Yin‐Hsiu
Publicado 2022

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

por Hsu, Rai‐Hseng, Lee, Chen‐Hao, Chien, Yin‐Hsiu, Lin, Shuan‐Pei, Hung, Miao‐Zi, Chen, Nai‐Chi, Lin, Yi‐Lin, Hwu, Wuh‐Liang, Lee, Ni‐Chung
Publicado 2023

Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect

por Chou, Chien-Chih, Shih, Po-Jen, Jou, Tzuu-Shuh, Hsu, Min-Yen, Chen, Jun-Peng, Hsu, Rai-Hseng, Lee, Ni-Chung, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Wang, I-Jong
Publicado 2023