المؤلفون: Hwu, Wuh-Liang

المصدر: Journal of the Formosan Medical Association; Jul2024, Vol. 123 Issue 7, p738-743, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, ENZYME replacement therapy, HYPERTROPHIC cardiomyopathy, LYSOSOMAL storage diseases, MOLECULAR diagnosis, GLYCOGEN storage disease type II, CARDIOMYOPATHIES

مصطلحات جغرافية: TAIWAN

المؤلفون: Lu, Wen-Li, Chien, Yin-Hsiu, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chou, Yen-Yin, Chu, Shao-Yin, Li, Meng-Ju, Lee, An-Ju, Liao, Chao-Chuan, Wang, Chung-Hsing, Lee, Ni-Chung

المصدر: Orphanet Journal of Rare Diseases; 9/15/2023, Vol. 18 Issue 1, p1-11, 11p

مصطلحات موضوعية: GAUCHER'S disease, SYMPTOMS, ENZYME replacement therapy, PHENOTYPIC plasticity, LYSOSOMAL storage diseases

مصطلحات جغرافية: TAIWAN

المؤلفون: Chuang, Chih-Kuang, Tu, Yuan-Rong, Lee, Chung-Lin, Lo, Yun-Ting, Chang, Ya-Hui, Liu, Mei-Ying, Liu, Hsin-Yun, Chen, Hsiao-Jan, Kao, Shu-Min, Wang, Li-Yun, Ho, Huey-Jane, Lin, Hsiang-Yu, Lin, Shuan-Pei

المصدر: International Journal of Molecular Sciences; Sep2022, Vol. 23 Issue 17, p9979, 17p

مصطلحات موضوعية: GLYCOSAMINOGLYCANS, GENETIC variation, TANDEM mass spectrometry, INFANTS, LYSOSOMES, LYSOSOMAL storage diseases, DERMATAN sulfate

مصطلحات جغرافية: TAIWAN

المصدر: Cardiovascular Week; 5/6/2024, p996-996, 1p

مصطلحات موضوعية: HYPERTROPHIC cardiomyopathy, LIPID metabolism disorders, X-linked genetic disorders, LYSOSOMAL storage diseases, HEART failure, ARRHYTHMIA, ANGIOKERATOMA corporis diffusum

مصطلحات جغرافية: TAIWAN

المؤلفون: Klingelhöfer, Doris, Braun, Markus, Seeger‐Zybok, Rebekka K., Quarcoo, David, Brüggmann, Dörthe, Groneberg, David A.

المصدر: Molecular Genetics & Genomic Medicine; Sep2020, Vol. 8 Issue 9, p1-15, 15p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, RARE diseases, LYSOSOMAL storage diseases, HIGH-income countries, NEWBORN screening

مصطلحات جغرافية: TAIWAN, SOUTH Korea

المؤلفون: Liao, Hsuan-Chieh^1,2, Chiang, Chuan-Chi², Niu, Dau-Ming^1,3, Wang, Chung-Hsing⁴, Kao, Shu-Min², Tsai, Fuu-Jen⁴, Huang, Yu-Hsiu³, Liu, Hao-Chuan³, Huang, Chun-Kai³, Gao, He-Jin³, Yang, Chia-Feng³, Chan, Min-Ju², Lin, Wei-De⁴, Chen, Yann-Jang^1,5,6 yjchen@ym.edu.tw

المصدر: Clinica Chimica Acta. Apr2014, Vol. 431, p80-86. 7p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *TANDEM mass spectrometry, *MEDICAL screening, *DRIED blood spot testing, *DIAGNOSIS, DIAGNOSIS of neonatal diseases

مصطلحات جغرافية: TAIWAN

المؤلفون: Chuang, Chih-Kuang^1,2 (AUTHOR) mmhcck@gmail.com, Lee, Chung-Lin^1,3,4 (AUTHOR) clampcage@gmail.com, Tu, Ru-Yi¹ (AUTHOR) likemaruko@hotmail.com, Lo, Yun-Ting⁴ (AUTHOR) wish1001026@gmail.com, Sisca, Fran¹ (AUTHOR) fransiscazen@gmail.com, Chang, Ya-Hui⁴ (AUTHOR), Liu, Mei-Ying⁵ (AUTHOR) meiying@cfoh.tw, Liu, Hsin-Yun⁵ (AUTHOR) hyliu@cfoh.tw, Chen, Hsiao-Jan⁵ (AUTHOR) hjchen@cfoh.tw, Kao, Shu-Min⁵ (AUTHOR) kao@cfoh.tw, Wang, Li-Yun⁶ (AUTHOR) yurilarc@gmail.com, Ho, Huey-Jane⁶ (AUTHOR) juju5113@gmail.com, Lin, Hsiang-Yu^1,3,4,7,8,9 (AUTHOR) lxc46199@ms37.hinet.net, Lin, Shuan-Pei^1,3,4,7,10 (AUTHOR) lxc46199@ms37.hinet.net

المصدر: Diagnostics (2075-4418). Sep2021, Vol. 11 Issue 9, p1583. 1p.

مصطلحات موضوعية: *NEWBORN screening, *LYSOSOMAL storage diseases, *NEWBORN infants, *DIAGNOSIS, *SYMPTOMS

مصطلحات جغرافية: TAIWAN

المصدر: Hematology Week; 10/3/2023, p1848-1848, 1p

مصطلحات موضوعية: GAUCHER'S disease, SYMPTOMS, MEDICAL centers, LYSOSOMAL storage diseases, LIPID metabolism disorders

مصطلحات جغرافية: TAIWAN

المؤلفون: Mashima, Ryuichi¹ (AUTHOR) mashima-r@ncchd.go.jp, Okuyama, Torayuki¹ (AUTHOR), Ohira, Mari¹ (AUTHOR)

المصدر: International Journal of Molecular Sciences. 4/15/2020, Vol. 21 Issue 8, p2704-2704. 1p. 4 Diagrams, 2 Charts.

مصطلحات موضوعية: *LYSOSOMES, *LYSOSOMAL storage diseases, *INBORN errors of metabolism, *NIEMANN-Pick diseases, *BIOMARKERS, *NEWBORN screening

مصطلحات جغرافية: TAIWAN

المؤلفون: Lin, Hsiang-Yu, Chong, Kah-Wai, Hsu, Ju-Hui, Yu, Hsiao-Chi, Shih, Chun-Che, Huang, Cheng-Hung, Lin, Shing-Jong, Chen, Chen-Huan, Chiang, Chuan-Chi, Ho, Huey-Jane, Lee, Pi-Chang, Kao, Chuan-Hong, Cheng, Kang-Hsiang, Hsueh, Chuen, Niu, Dau-Ming

المصدر: Circulation: Cardiovascular Genetics; Oct2009, Vol. 2 Issue 5, p450-456, 7p, 1 Color Photograph, 1 Diagram, 4 Charts

مصطلحات موضوعية: DIAGNOSIS, LYSOSOMAL storage diseases, INBORN errors of metabolism diagnosis, GLYCOGEN storage disease type II, MUCOPOLYSACCHARIDOSIS, SIALIDOSES

مصطلحات جغرافية: TAIWAN