Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

by Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Published 2013-08-01

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene

by Sung-Pin Fan, Ni-Chung Lee, Chin-Hsien Lin
Published 2020-01-01

Congenital Malformations in Newborns—A Challenge Unmet for Decades

by Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2015-02-01

Russell–Silver syndrome presenting with ambiguous genitalia

by I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee
Published 2017-08-01

Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”

by Chia-Chieh Hsiao, Ni-Chung Lee, Chao-Wen Lin, Tzu-Hsun Tsai
Published 2017-10-01

Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia

by Chia-Chieh Hsiao, Ni-Chung Lee, Pei-Hsin Huang, Tzu-Hsun Tsai
Published 2016-11-01

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis

by Chun-Hua Liao, Ni-Chung Lee, Shiann-Tarng Jou, Bor-Luen Chiang, Hsin-Hui Yu
Published 2020-12-01

Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

by Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin
Published 2019-10-01

The Timely Needs for Infantile Onset Pompe Disease Newborn Screening—Practice in Taiwan

by Shu-Chuan Chiang, Yin-Hsiu Chien, Kai-Ling Chang, Ni-Chung Lee, Wuh-Liang Hwu
Published 2020-04-01

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

by Shi-Bing Wang, Wen-Chin Weng, Ni-Chung Lee, Wuh-Liang Hwu, Pi-Chuan Fan, Wang-Tso Lee
Published 2008-08-01

Glycogen Storage Disease Type Ib: The First Case in Taiwan

by Hui-Ju Hsiao, Hsiu-Hao Chang, Wuh-Liang Hwu, Ching-Wan Lam, Ni-Chung Lee, Yin-Hsiu Chien
Published 2009-06-01

Congenital Hypopituitarism due to POU1F1 Gene Mutation

by Ni-Chung Lee, Wen-Yu Tsai, Shinn-Forng Peng, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu
Published 2011-01-01

Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency

by Shih-Yin Ho, Shih-Yin Ho, Yin-Hsiu Chien, Yin-Hsiu Chien, Li-Kai Tsai, Shin-ichi Muramatsu, Shin-ichi Muramatsu, Wuh-Liang Hwu, Wuh-Liang Hwu, Horng-Huei Liou, Horng-Huei Liou, Horng-Huei Liou, Ni-Chung Lee, Ni-Chung Lee
Published 2019-01-01

Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios

by Shin-Yu Lin, Gwo-Tsann Chuang, Chien-Hui Hung, Wei-Chou Lin, Yung-Ming Jeng, Ting-An Yen, Karine Chang, Yin-Hsiu Chien, Yin-Hsiu Chien, Wuh-Liang Hwu, Wuh-Liang Hwu, Chien-Nan Lee, I-Jung Tsai, Ni-Chung Lee, Ni-Chung Lee
Published 2021-06-01

Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome

by Sung-Pin Fan, Hsueh-Wen Hsueh, Hsin-Chieh Huang, Koping Chang, Ni-Chung Lee, Pei-Hsin Huang, Chih-Chao Yang
Published 2021-09-01

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report

by Kai-Chieh Chang, Yih-Chih Kuo, Hsueh-Wen Hsueh, Ni-Chung Lee, Chih-Chao Yang, Sung-Tsang Hsieh, Chi-Chao Chao
Published 2020-12-01

Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center

by Ming-Yu Liu, Cheng-Ting Lee, Ni-Chung Lee, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Yu Tsai
Published 2020-01-01

SHOX deficiency in short Taiwanese children: A single-center experience

by Yi-Ching Tung, Ni-Chung Lee, Wuh-Liang Hwu, Shih-Yao Liu, Cheng-Ting Lee, Yin-Hsiu Chien, Wen-Yu Tsai
Published 2018-10-01

A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

by Yin-Ting Zeng, Wen-Yu Liu, Pao-Chuan Torng, Wuh-Liang Hwu, Ni-Chung Lee, Chun-Yi Lin, Yin-Hsiu Chien
Published 2021-09-01

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

by Chieh‐Wen Kuo, Wuh‐Liang Hwu, Yin‐Hsiu Chien, Ching Hsu, Miao‐Zi Hung, I‐Lin Lin, Feipei Lai, Ni‐Chung Lee
Published 2020-10-01