المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Early diagnosis, Mucopolysaccharidosis, Newborn screening, Survival, Taiwan, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01598-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1a7cb82677974c78a14f127068c04131

المؤلفون: Hsiang-Yu Lin, Chih-Kuang Chuang, Ming-Ren Chen, Shio Jean Lin, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Yin-Hsiu Chien, Ju-Li Lin, Shuan-Pei Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: Causes of death, Diagnosis, Hernia repair, Hunter syndrome, Lysosomal storage disease, Surgery, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0827-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/197cc48748754d22822637d1efd4bec9

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Ru-Yi Tu, Ya-Hui Chang, Chia-Ying Chang, Pao Chin Chiu, Tung-Ming Chang, Wen-Hui Tsai, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Diagnostics, Vol 9, Iss 4, p 140 (2019)

مصطلحات موضوعية: cross-specialty collaboration, glycosaminoglycans, high-risk screening, liquid chromatography/tandem mass spectrometry, mucopolysaccharidosis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/9/4/140; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/a5cc66bb91bb4e7bb710cfa83c3f4173

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Diagnostics, Vol 9, Iss 4, p 148 (2019)

مصطلحات موضوعية: body mass index, growth, height, mucopolysaccharidosis, weight, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/9/4/148; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/abf895fd3cf74b00b0ad5e1d5af9bba5

المؤلفون: Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Ciliopathy, Bardet-biedl syndrome, Alström syndrome, Oral-facial-digital syndrome, Joubert syndrome, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/73060ee9b5c9490996048dfd21858c78

المؤلفون: Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, Ni-Chung Lee, Pao-Chin Chiu, Wuh-Liang Hwu, Yin-Hsiu Chien

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101048- (2024)

مصطلحات موضوعية: Galactosemia, GALE deficiency, Epimerase deficiency galactosemia, Newborn screening, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000016; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/694029b172304ef986e2e08705986faa

المؤلفون: Ho-Poh Kek, Wan-Long Tsai, Pao-Chin Chiu, Wen-Harn Koh, Ching-Chung Tsai

المصدر: Children, Vol 11, Iss 3, p 285 (2024)

مصطلحات موضوعية: glutaric aciduria type II, multiple acyl-CoA dehydrogenase deficiency, paroxysmal and recurrent vomiting, epigastric pain, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2227-9067/11/3/285; https://doaj.org/toc/2227-9067; https://doaj.org/article/678bea1b8d364d85ac6981d51f40fffd

الاتاحة: https://doi.org/10.3390/children11030285
https://doaj.org/article/678bea1b8d364d85ac6981d51f40fffd

المؤلفون: Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: congenital hyperinsulinism, ABCC8, KCNJ11, GCK, KATP channel, founder mutation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1283907/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1245d9fc0f6545668f7be7e04ecc5a60

المؤلفون: Chien-Yi Lai, I-Jung Tsai, Pao-Chin Chiu, David B. Ascher, Yin-Hsiu Chien, Yu-Hsuan Huang, Yi-Lin Lin, Wuh-Liang Hwu, Ni-Chung Lee

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/160603f98925462d90045a174b49b226

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

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: ASS1, carriers, citrullinemia, newborn screening, tandem mass analysis, Genetics, QH426-470

Relation: https://doi.org/10.1002/mgg3.2007; https://doaj.org/toc/2324-9269; https://doaj.org/article/5bad4ca9ebb946f0b57657977242aa81

الاتاحة: https://doi.org/10.1002/mgg3.2007
https://doaj.org/article/5bad4ca9ebb946f0b57657977242aa81

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

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100902- (2022)

مصطلحات موضوعية: Adrenoleukodystrophy, Newborn screening, ABCD1, Tandem mass analysis, C26:0-LPC, Null variant, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000623; https://doaj.org/toc/2214-4269; https://doaj.org/article/fa961e5e4c4c4912a0d855e64c3b53b8

الاتاحة: https://doi.org/10.1016/j.ymgmr.2022.100902
https://doaj.org/article/fa961e5e4c4c4912a0d855e64c3b53b8

المؤلفون: Yin-Hsiu Chien, Ni-Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao-Chin Chiu, Shao-Yin Chu, Chen-Hao Lee, An-Ru Lee, Wuh-Liang Hwu

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Lysosomal storage disease, Mucopolysaccharidosis, Multiplex newborn screening, Morquio disease, MPS4A, Tandem mass spectrometry, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2d71574b98154f93b531b9238cb0b997

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 11; Issue 11; Pages: 1197

مصطلحات موضوعية: Silver–Russell syndrome, epigenotype, genotype, methylation, phenotype

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/jpm11111197

الاتاحة: https://doi.org/10.3390/jpm11111197

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Chia-Feng Yang, Meng-Che Tsai, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: Journal of Personalized Medicine; Volume 11; Issue 11; Pages: 1066

مصطلحات موضوعية: Beckwith-Wiedemann syndrome, epigenotype, MassARRAY, phenotype, quantitative DNA methylation

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/jpm11111066

الاتاحة: https://doi.org/10.3390/jpm11111066

المؤلفون: Yin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu-Jen Tsai, Siew-Lee Wong, Ni-Chung Lee, Wuh-Liang Hwu

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: Newborn screening, Early treatment, Enzyme replacement therapy, Pompe disease, Dosage, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300379; https://doaj.org/toc/2214-4269; https://doaj.org/article/5372fb7ce94c44608bea42669b433dde

الاتاحة: https://doi.org/10.1016/j.ymgmr.2020.100591
https://doaj.org/article/5372fb7ce94c44608bea42669b433dde

المؤلفون: PEN-HUA SU, JU-SHAN YU, YU-ZHEN WU, YU-SHEN TSAI, FU-SUNG LO, JU-LI LIN, MEI-CHYN CHAO, CHIA-CHI HSU, YU-YUAN KE, PAO-CHIN CHIU, JO-CHING CHEN, YING-HUA HUANG, SHUAN-PEI LIN, YEN-YIN CHOU, WEI-HSIN TING, SHUO-YU WANG, CHIAO-FAN CHIU, YEN-CHUN HUANG, HUI-PIN HSIAO, CHAO-HSU LIN

المصدر: In Vivo; Jan/Feb2024, Vol. 38 Issue 1, p341-350, 10p

مصطلحات موضوعية: GENETIC mutation, HYPOPHOSPHATEMIA, FIBROBLAST growth factors, OSTEOMALACIA

المؤلفون: Hsiang-Yu Lin, Chung-Lin Lee, Yuan-Rong Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin

المصدر: International Journal of Medical Sciences; 2024, Vol. 21 Issue 1, p8-18, 11p

المؤلفون: Rai-Hseng Hsu, Wei-De Lin, Mei-Chyn Chao, Hui-Pin Hsiao, Siew-Lee Wong, Pao-Chin Chiu, Shao-Yin Chu, Yu-Yuan Ke, Beng-Huat Lau, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Chung-Hsing Wang, Ni-Chung Lee

المصدر: Journal of the Formosan Medical Association, Vol 118, Iss 1, Pp 142-147 (2019)

مصطلحات موضوعية: Medicine (General), R5-920

Relation: http://www.sciencedirect.com/science/article/pii/S0929664617305752; https://doaj.org/toc/0929-6646; https://doaj.org/article/ebefc780d6ae484f93b3268cb1cbfd97

الاتاحة: https://doi.org/10.1016/j.jfma.2018.02.003
https://doaj.org/article/ebefc780d6ae484f93b3268cb1cbfd97

المؤلفون: Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)

مصطلحات موضوعية: independent living, mucopolysaccharidosis, Taiwan, WeeFIM, Genetics, QH426-470

Relation: https://doi.org/10.1002/mgg3.790; https://doaj.org/toc/2324-9269; https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb

الاتاحة: https://doi.org/10.1002/mgg3.790
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb

المؤلفون: Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Chen

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, congenital hyperinsulinism, ABCC8, KCNJ11, GCK, KATP channel, founder mutation

Relation: https://figshare.com/articles/dataset/DataSheet_1_Genotype-phenotype_correlation_in_Taiwanese_children_with_diazoxide-unresponsive_congenital_hyperinsulinism_docx/24571405

الاتاحة: https://doi.org/10.3389/fendo.2023.1283907.s001
https://figshare.com/articles/dataset/DataSheet_1_Genotype-phenotype_correlation_in_Taiwanese_children_with_diazoxide-unresponsive_congenital_hyperinsulinism_docx/24571405