المؤلفون: Wan-Chen Wu, Hung-Yuan Li, Chuan-Chi Chiang, Fung-Chang Sung, Jung-Nan Wei, Lee-Ming Chuang

المصدر: Journal of the Formosan Medical Association, Vol 119, Iss 5, Pp 974-981 (2020)

مصطلحات موضوعية: Screening, Diabetes, Children, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0929664619304875; https://doaj.org/toc/0929-6646

URL الوصول: https://doaj.org/article/4c54eef5def644c392b802037b8582e3

المؤلفون: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho, Dau-Ming Niu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Methylmalonic acidemia, Propionic acidemia, Newborn screening, Liver transplantation, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1045-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/85a290d3aa23465fa1c92b8324658af5

المؤلفون: Szu-Yin Tseng, Dau-Ming Niu, Tzu-Hung Chu, Yi-Chen Yeh, Man-Hsu Huang, Tsui-Feng Yang, Hsuan-Chieh Liao, Chuan-Chi Chiang, Hui-Chen Ho, Wen-Jue Soong, Chia-Feng Yang

المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919300370; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/6ae5e09db3ea4e43b5caa8b97d9ed955

المؤلفون: Chih-Kuang Chuang, Hsiang-Yu Lin, Tuan-Jen Wang, You-Hsin Huang, Min-Ju Chan, Hsuan-Chieh Liao, Yun-Ting Lo, Li-Yun Wang, Ru-Yi Tu, Yi-Ya Fang, Tzu-Lin Chen, Hui-Chen Ho, Chuan-Chi Chiang, Shuan-Pei Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)

مصطلحات موضوعية: Mucopolysaccharidoses, Glycosaminoglycans, Tandem mass spectrometry, α-iduronidase, Iduronate-2-sulfatase, DNA sequencing analysis, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0816-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e244afb1161b4788b8a01e337d90fa30

المؤلفون: Fung-Chang Sung, Jung-Nan Wei, Chuan-Chi Chiang, Wan-Chen Wu, Lee-Ming Chuang, Hung-Yuan Li

المصدر: Journal of the Formosan Medical Association, Vol 119, Iss 5, Pp 974-981 (2020)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Urinalysis, Type 2 diabetes, Overweight, Asymptomatic, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Prevalence, medicine, Screening method, Humans, Mass Screening, Blood test, Family history, Child, Children, lcsh:R5-920, medicine.diagnostic_test, business.industry, Diabetes, General Medicine, medicine.disease, Diabetes Mellitus, Type 2, 030220 oncology & carcinogenesis, Screening, Female, 030211 gastroenterology & hepatology, medicine.symptom, lcsh:Medicine (General), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fead107aaa08fba0e7b628f6b196dac3
https://doi.org/10.1016/j.jfma.2019.09.013

المؤلفون: Huey Jane Ho, Shuan-Pei Lin, Hsuan-Chieh Liao, Chih Jou Lai, Ming-Chih Ho, Chia Feng Yang, Chin Su Liu, Chuan Chi Chiang, Dau Ming Niu, Yin-Hsiu Chien, Hsiang-Yu Lin, Niang Cheng Lin, Ni-Chung Lee, Rey-Heng Hu, Wuh-Liang Hwu, Tzu Hung Chu

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, 0301 basic medicine, Newborn screening, medicine.medical_specialty, medicine.medical_treatment, Taiwan, Methylmalonic acidemia, lcsh:Medicine, 030105 genetics & heredity, Liver transplantation, Propionic acidemia, Gastroenterology, Cobalamin, 03 medical and health sciences, chemistry.chemical_compound, Enteral Nutrition, Neonatal Screening, 0302 clinical medicine, Admission time, Internal medicine, medicine, Humans, Pharmacology (medical), Amino Acid Metabolism, Inborn Errors, Genetics (clinical), business.industry, Research, Incidence (epidemiology), lcsh:R, Infant, Newborn, Mean age, General Medicine, medicine.disease, Hospitalization, Treatment Outcome, Caregivers, chemistry, Mutation, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21bbce1bcbd108ecf1bc381759108f16
http://link.springer.com/article/10.1186/s13023-019-1045-1

المؤلفون: Hsiao-Jan Chen, Shuan-Pei Lin, Mei-Ying Liu, Nagendar Pendem, Min-Ju Chan, You-Hsin Huang, Hsuan-Chieh Liao, Michael H. Gelb, Arun Kumar, Chih-Kuang Chuang, Shu-Min Kao, Hsiang-Yu Lin, Chuan-Chi Chiang, Naveen Kumar Chennamaneni

المصدر: The Journal of Pediatrics. 205:176-182

مصطلحات موضوعية: Arylsulfatase B, Mucopolysaccharidosis I, Mucopolysaccharidosis, Taiwan, Tandem mass spectrometry, Article, Microbiology, Neonatal Screening, Tandem Mass Spectrometry, Lysosomal storage disease, medicine, Humans, Genetic Testing, Mucopolysaccharidosis II, Retrospective Studies, Genetic testing, Newborn screening, medicine.diagnostic_test, business.industry, Infant, Newborn, Mucopolysaccharidosis IV, Reproducibility of Results, medicine.disease, Dried blood spot, Pediatrics, Perinatology and Child Health, Pseudodeficiency alleles, Dried Blood Spot Testing, Morbidity, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a968c07043a729f63eb29fd16ab0345
https://doi.org/10.1016/j.jpeds.2018.09.063

المؤلفون: Yi-Chen Yeh, Wen-Jue Soong, Tsui-Feng Yang, Chuan-Chi Chiang, Dau-Ming Niu, Hui-Chen Ho, Chia-Feng Yang, Man-Hsu Huang, Tzu-Hung Chu, Szu-Yin Tseng, Hsuan-Chieh Liao

المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Anemia, Short Communication, Hepatosplenomegaly, Disease, Gaucher disease, Gene mutation, Malignancy, Lysosomal storage disease(LSD), Gastroenterology, Liver mass, DBS, dried blood test, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Biopsy, Genetics, medicine, Molecular Biology, lcsh:QH301-705.5, Enzyme replacement therapy(ERT), 0303 health sciences, lcsh:R5-920, medicine.diagnostic_test, business.industry, Medical record, SRT, substrate reduction therapy, 030305 genetics & heredity, GD, Gaucher disease, Gaucheroma, nutritional and metabolic diseases, Enzyme replacement therapy, medicine.disease, LSD, Lysosomal storage disease, lcsh:Biology (General), medicine.symptom, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, ERT, Enzyme replacement therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96c2147209a8c063f90f79171d68fd57
http://www.sciencedirect.com/science/article/pii/S2214426919300643

المؤلفون: Yi-Ya Fang, Tzu-Lin Chen, Tuan-Jen Wang, Li-Yun Wang, Hsuan-Chieh Liao, You-Hsin Huang, Chuan-Chi Chiang, Ru-Yi Tu, Yun-Ting Lo, Min-Ju Chan, Chih-Kuang Chuang, Shuan-Pei Lin, Hui-Chen Ho, Hsiang-Yu Lin

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-14 (2018)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Tandem mass spectrometry, Urinary system, Mucopolysaccharidosis I, Iduronate-2-sulfatase, Prevalence, Taiwan, lcsh:Medicine, Asymptomatic, Gastroenterology, Dermatan sulfate, 03 medical and health sciences, chemistry.chemical_compound, Iduronidase, α-iduronidase, 0302 clinical medicine, Neonatal Screening, Internal medicine, medicine, Missense mutation, Humans, Pharmacology (medical), Genetics (clinical), Mucopolysaccharidosis II, Glycosaminoglycans, Newborn screening, business.industry, Research, lcsh:R, Infant, Newborn, nutritional and metabolic diseases, General Medicine, Enzyme replacement therapy, Sequence Analysis, DNA, Mucopolysaccharidoses, MPS newborn screening, 030104 developmental biology, chemistry, DNA sequencing analysis, Female, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54c45075cd749336a1d86300c5d121ca
http://link.springer.com/article/10.1186/s13023-018-0816-4

المؤلفون: Yann Jang Chen, Hao Chuan Liu, Chun Kai Huang, Dau Ming Niu, Ting-Rong Hsu, Hsuan-Chieh Liao, Chuan Chi Chiang, Leslie Young

المصدر: Molecular Genetics and Metabolism. 123:140-147

مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Metabolite, In silico, Taiwan, Mutagenesis (molecular biology technique), Biology, Biochemistry, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, Neonatal Screening, Endocrinology, Genetics, medicine, Humans, Molecular Biology, Blood Specimen Collection, Newborn screening, Infant, Newborn, medicine.disease, Phenotype, Fabry disease, In vitro, 030104 developmental biology, chemistry, alpha-Galactosidase, Mutation, Fabry Disease, Biological Assay, Female, Dried Blood Spot Testing, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58bdb7dcad1401e49c3a73f8c269644
https://doi.org/10.1016/j.ymgme.2017.06.002