Search research articles
Contact Us
Filters
Showing results (101-110 of 184) with videos related to
Page
of 19
Sort By:
JACS Au
|
April 1, 2024
Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
Huang-Yi Li, Hung-Yi Lin, Sheng-Kai Chang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 2, 2015
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
Yu-Ning Liu, Tze-Tze Liu, Ya-Ling Fan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 20, 2009
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
Dau-Ming Niu, Ju-Hui Hsu, Kah-Wai Chong, et al.
Orphanet Journal of Rare Diseases
|
February 24, 2021
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Molecular Genetics and Metabolism
|
November 28, 2007
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
Hsien-Hsiung Lee, Yann-Jinn Lee, Yu-Mei Wang, et al.
Molecular Genetics and Metabolism Reports
|
November 17, 2022
Novel mutation of <i>IFT140</i> in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
Tsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, et al.
Journal of Medical Genetics
|
September 22, 2022
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
Chia-Feng Yang, Ting-Wei Ernie Liao, Yen-Ling Chu, et al.
Molecular Genetics and Metabolism Reports
|
October 26, 2020
Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
Fu-Shiuan Lee, Hsiu-Ju Yen, Dau-Ming Niu, et al.
Journal of Human Genetics
|
April 5, 2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
Kung-Hao Liang, Yung-Hsiu Lu, Chih-Wei Niu, et al.
Gene
|
August 23, 2012
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
Jeng-Jer Shieh, Yung-Hsiu Lu, Shi-Wei Huang, et al.
Page
of 19
Search research articles
Search
Showing results (101-110 of 184) with videos related to
Sort By:
Page
of 19
JACS Au
|
April 1, 2024
Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase
Huang-Yi Li, Hung-Yi Lin, Sheng-Kai Chang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 2, 2015
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
Yu-Ning Liu, Tze-Tze Liu, Ya-Ling Fan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
October 20, 2009
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis
Dau-Ming Niu, Ju-Hui Hsu, Kah-Wai Chong, et al.
Orphanet Journal of Rare Diseases
|
February 24, 2021
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Molecular Genetics and Metabolism
|
November 28, 2007
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency
Hsien-Hsiung Lee, Yann-Jinn Lee, Yu-Mei Wang, et al.
Molecular Genetics and Metabolism Reports
|
November 17, 2022
Novel mutation of <i>IFT140</i> in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy
Tsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, et al.
Journal of Medical Genetics
|
September 22, 2022
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme
Chia-Feng Yang, Ting-Wei Ernie Liao, Yen-Ling Chu, et al.
Molecular Genetics and Metabolism Reports
|
October 26, 2020
Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease
Fu-Shiuan Lee, Hsiu-Ju Yen, Dau-Ming Niu, et al.
Journal of Human Genetics
|
April 5, 2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
Kung-Hao Liang, Yung-Hsiu Lu, Chih-Wei Niu, et al.
Gene
|
August 23, 2012
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
Jeng-Jer Shieh, Yung-Hsiu Lu, Shi-Wei Huang, et al.
Page
of 19