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JIMD Reports
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June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Jürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 12, 2014
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan
Hsuan-Chieh Liao, Chuan-Chi Chiang, Dau-Ming Niu, et al.
Orphanet Journal of Rare Diseases
|
May 27, 2018
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, et al.
Journal of the Chinese Medical Association : JCMA
|
January 7, 2014
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
Hsiang-Yu Lin, Yu-Hsiu Huang, Hsuan-Chieh Liao, et al.
Circulation. Cardiovascular Genetics
|
December 25, 2009
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
Hsiang-Yu Lin, Kah-Wai Chong, Ju-Hui Hsu, et al.
BMJ Open
|
July 19, 2013
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
Hsiang-Yu Lin, Hao-Chuan Liu, Yu-Hsiu Huang, et al.
Journal of the Chinese Medical Association : JCMA
|
July 7, 2010
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan
Kang-Hsiang Cheng, Mei-Ying Liu, Chuan-Hong Kao, et al.
Orphanet Journal of Rare Diseases
|
April 4, 2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2014
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A)
Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 24, 2013
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
Hsuan-Chieh Liao, Yu-Hsiu Huang, Yann-Jang Chen, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 31) with videos related to
Sort By:
Page
of 4
JIMD Reports
|
June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Jürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 12, 2014
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan
Hsuan-Chieh Liao, Chuan-Chi Chiang, Dau-Ming Niu, et al.
Orphanet Journal of Rare Diseases
|
May 27, 2018
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, et al.
Journal of the Chinese Medical Association : JCMA
|
January 7, 2014
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
Hsiang-Yu Lin, Yu-Hsiu Huang, Hsuan-Chieh Liao, et al.
Circulation. Cardiovascular Genetics
|
December 25, 2009
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population
Hsiang-Yu Lin, Kah-Wai Chong, Ju-Hui Hsu, et al.
BMJ Open
|
July 19, 2013
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A)
Hsiang-Yu Lin, Hao-Chuan Liu, Yu-Hsiu Huang, et al.
Journal of the Chinese Medical Association : JCMA
|
July 7, 2010
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan
Kang-Hsiang Cheng, Mei-Ying Liu, Chuan-Hong Kao, et al.
Orphanet Journal of Rare Diseases
|
April 4, 2019
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, et al.
Orphanet Journal of Rare Diseases
|
July 2, 2014
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A)
Ting-Rong Hsu, Shih-Hsien Sung, Fu-Pang Chang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 24, 2013
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)
Hsuan-Chieh Liao, Yu-Hsiu Huang, Yann-Jang Chen, et al.
Page
of 4