Ni-Chung Lee

educated at: National Taiwan University College of Medicine, National Yang-Ming University

occupation: ricercatore

official website: research.mc.ntu.edu.tw/web/Teacher!one.action?tid=646

Bibliographic databases:

Series

There is nothing here

Create a new serie

Works

There is nothing here

Create a new work

Articles 79

Date

Title

Authors

2004-10-01

Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism

Ni-Chung Lee
2005-12-20

Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency

Ni-Chung Lee
2005-10-12

Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?

Ni-Chung Lee
2006-05-30

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Ni-Chung Lee, Yen-Hsuan Ni, Yin-Hsiu Chien, Wuh-liang Hwu, Pao-Chin Chiu, Huey-Ling Chen, Chang Mei-hwei
2006-07-20

Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy

Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee
2007-09-11

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

Wuh-liang Hwu, Yin-Hsiu Chien, Mei-Hwan Wu, Ming-Tai Lin, Wu-Shiun Hsieh, Ni-Chung Lee
2007-06-21

Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year

Li-Kai Tsai, Shyh-jye Chen, Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee
2007-08-20

Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency

Wuh-liang Hwu, Yin-Hsiu Chien, Nelson Leung-Sang Tang, Ni-Chung Lee
2008-11-01

Brain damage by mild metabolic derangements in methylmalonic acidemia

Wuh-liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien, Yen-Tze Liu
2008-03-01

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency

Ni-Chung Lee
2008-06-02

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program

Mei-Hwan Wu, Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Shu-Chuan Chiang, Xiaokui Kate Zhang, Joan Keutzer, Pei-Hsin Huang
2008-08

Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

Huey-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Yen-Hsuan Ni, Wuh-liang Hwu, Pao-Chin Chiu, Chang Mei-hwei
2009-12-28

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Wuh-liang Hwu, Ni-Chung Lee, Chun-An Chen, Yin-Hsiu Chien, Nelson Leung-Sang Tang, Pao-Chin Chiu
2009-10-01

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)

Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Robert Dobrovolny, Robert J. Desnick, Shu-Chuan Chiang, Hui-Ying Yeh, May-Chin Chao, Shio-Jean Lin
2009-12-01

Pompe disease in infants: improving the prognosis by newborn screening and early treatment

Yin-Hsiu Chien, Ni-Chung Lee, Mei-Hwan Wu, Wuh-liang Hwu, Beth L. Thurberg, Fuu-Jen Tsai, Shu-Chuan Chiang, Xiaokui Kate Zhang, Joan Keutzer, Pei-Hsin Huang
2009-01-01

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

Wuh-liang Hwu, Ni-Chung Lee, David Dimmock
2009-05-31

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease

Wuh-liang Hwu, Jou-Kou Wang, Mei-Hwan Wu, Shuenn-Nan Chiu, Yin-Hsiu Chien, Ni-Chung Lee, Ming-Tai Lin
2009-02-01

Caloric restriction in Alström syndrome prevents hyperinsulinemia

Wuh-liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien, Wen-Yu Tsai
2009-10-09

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

Wuh-liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien, Hui-Ying Yeh, Ling-Kai Chang
2009-12-28

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Yin-Hsiu Chien, Ni-Chung Lee, Wuh-liang Hwu, Joan Keutzer
2009-07-28

Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti

Ni-Chung Lee, Wuh-liang Hwu, Yin-Hsiu Chien
2010-06-08

Newborn screening for neuropathic lysosomal storage disorders

Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee
2010-06-01

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan

Wuh-liang Hwu, Ni-Chung Lee, Yen-Tze Liu, Shuan-Pei Lin, Dau-Ming Niu, Kwang-Jen Hsiao
2010-04-01

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

Wuh-liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Mei-Chyn Chao, Shuan-Pei Lin
2010-09-06

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

Yin-Hsiu Chien, Ni-Chung Lee, Wuh-liang Hwu, Shu-Chuan Chiang, Xiaokui Kate Zhang, Joan Keutzer
2010-10-06

Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan

Yin-Hsiu Chien, Wuh-liang Hwu, Ni-Chung Lee, Fuu-Jen Tsai, Shio-Jean Lin, Shuan-Pei Lin, Ming-Ren Chen, Chih-Kuang Chuang, Hui-Ping Pan, Dau-Ming Niu
2010-06-09

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

Yin-Hsiu Chien, Ni-Chung Lee, Wuh-liang Hwu, May-Chin Chao
2011-01-13

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening

Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Beth L. Thurberg, Fuu-Jen Tsai
2011-08-31

Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum

Margherita Milone, Ni-Chung Lee
2011-09-09

Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy

Yin-Hsiu Chien, Wuh-liang Hwu, Ni-Chung Lee, Jou-Kou Wang, Chun-Wei Lu, Ming-Tai Lin, Mei-Hwan Wu
2011-09-13

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation

Sing-Chung Li, Wuh-liang Hwu, Yin-Hsiu Chien, Hung-Chieh Chou, Wu-Shiun Hsieh, Po-Nien Tsao, Ni-Chung Lee
2011-01-01

Congenital hypopituitarism due to POU1F1 gene mutation

Ni-Chung Lee, Wen-Yu Tsai, Yi-Ching Tung, Yin-Hsiu Chien, Wuh-liang Hwu

Comments

There is nothing here

Lists

There is nothing here

Human -

Welcome to inventaire

The library of your friends and communities

Learn more

Author

Ni-Chung Lee

Series

Works

Articles 79

Comments

Lists

Fediverse followers 0

Welcome to inventaire