-
1دورية أكاديمية
المؤلفون: Chih-Kuang Chuang, Yuan-Rong Tu, Chung-Lin Lee, Yun-Ting Lo, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 17, p 9979 (2022)
مصطلحات موضوعية: mucopolysaccharidosis, glycosaminoglycan (GAG), autosomal recessive inheritance, X-linked recessive inheritance, variant allele, GAG-derived disaccharide, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Hsiang-Yu Lin, Ya-Hui Chang, Chung-Lin Lee, Yuan-Rong Tu, Yun-Ting Lo, Pei-Wen Hung, Dau-Ming Niu, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Chih-Kuang Chuang, Shuan-Pei Lin
المصدر: Journal of Personalized Medicine, Vol 12, Iss 7, p 1023 (2022)
مصطلحات موضوعية: enzyme replacement therapy, genotype-phenotype correlation, glycosaminoglycans, hematopoietic stem cell transplantation, mucopolysaccharidosis II (MPS II), newborn screening program, Medicine
وصف الملف: electronic resource
-
3دورية أكاديمية
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
-
4دورية أكاديمية
المؤلفون: Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Fran Sisca, Ya-Hui Chang, Mei-Ying Liu, Hsin-Yun Liu, Hsiao-Jan Chen, Shu-Min Kao, Li-Yun Wang, Huey-Jane Ho, Hsiang-Yu Lin, Shuan-Pei Lin
المصدر: Diagnostics, Vol 11, Iss 9, p 1583 (2021)
مصطلحات موضوعية: mucopolysaccharidosis, lysosomal storage disease, newborn screening for MPS, gold standard of MPS confirmation, GAG-derived disaccharide, Medicine (General), R5-920
وصف الملف: electronic resource
-
5
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 Diseasesمصطلحات 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
-
6
المؤلفون: Hsiao-Jan Chen, Shu-Min Kao, Ya-Hui Chang, Chung-Lin Lee, Hsin-Yun Liu, Chih-Kuang Chuang, Mei-Ying Liu, Li-Yun Wang, Huey-Jane Ho, Ru-Yi Tu, Hsiang-Yu Lin, Shuan-Pei Lin, Fran Sisca, Yun-Ting Lo
المصدر: Diagnostics
Volume 11
Issue 9
Diagnostics, Vol 11, Iss 1583, p 1583 (2021)مصطلحات موضوعية: Medicine (General), congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Mucopolysaccharidosis, Clinical Biochemistry, Prevalence, Asymptomatic, Article, symbols.namesake, R5-920, GAG-derived disaccharide, Lysosomal storage disease, medicine, newborn screening for MPS, Sanger sequencing, Newborn screening, business.industry, gold standard of MPS confirmation, food and beverages, nutritional and metabolic diseases, mucopolysaccharidosis, Gold standard (test), medicine.disease, lysosomal storage disease, Homogeneous, symbols, medicine.symptom, business
وصف الملف: application/pdf
-
7
المؤلفون: Dau Ming Niu, Ju Hui Hsu, Huey Jane Ho, Pi Chang Lee, Hsiang-Yu Lin, Hsiao Chi Yu, Po Kang Lin, Shuan-Pei Lin, Cheng Hung Huang, Kah Wai Chong, Shih Jen Chen, Kang Hsiang Cheng, Chuan Chi Chiang
المصدر: Journal of Inherited Metabolic Disease. 33:619-624
مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Eye Diseases, DNA Mutational Analysis, Taiwan, Diagnostic Techniques, Ophthalmological, Urinalysis, Left ventricular hypertrophy, Gastroenterology, Young Adult, Asian People, Internal medicine, Genetics, Albuminuria, Humans, Medicine, Genetic Predisposition to Disease, Cornea verticillata, Genetics (clinical), Aged, Aged, 80 and over, Newborn screening, business.industry, Enzyme replacement therapy, Clinical Enzyme Tests, Middle Aged, medicine.disease, Fabry disease, Surgery, Phenotype, Echocardiography, alpha-Galactosidase, Mutation, Fabry Disease, Female, Hypertrophy, Left Ventricular, Microalbuminuria, medicine.symptom, Age of onset, business, Biomarkers
-
8
المؤلفون: Wuh-Liang Hwu, Mei Ying Liu, Shuan-Pei Lin, Dau Ming Niu, Chuan Chi Chiang, Kwang-Jen Hsiao, Chuan Hong Kao, Cheng Hung Huang, Ju Li Lin, Ni-Chung Lee, Huey Jane Ho, Ping Yao Hung, Kang Hsiang Cheng, Yann Jang Chen, Tze Tze Liu, Hsiang-Yu Lin
المصدر: Journal of the Chinese Medical Association, Vol 73, Iss 6, Pp 314-318 (2010)
مصطلحات موضوعية: medicine.medical_specialty, Fulminant, Bicarbonate, Methylmalonic acid, Taiwan, methylmalonic aciduria, Tandem mass spectrometry, Gastroenterology, chemistry.chemical_compound, Neonatal Screening, Ammonia, Internal medicine, Carnitine, tandem mass spectrometry, medicine, Humans, Acetylcarnitine, Medicine(all), Newborn screening, lcsh:R5-920, medicine.diagnostic_test, business.industry, newborn screening, Infant, Newborn, food and beverages, General Medicine, Surgery, chemistry, Methylmalonic aciduria, Liver function tests, business, lcsh:Medicine (General), medicine.drug, Methylmalonic Acid
-
9
المؤلفون: Hsiang-Yu Lin, Huey Jane Ho, Hsiao Chi Yu, Cheng Hung Huang, Kang Hsiang Cheng, Pi Chang Lee, Ju Hui Hsu, Chun Che Shih, Kah Wai Chong, Dau Ming Niu, Chen Huan Chen, Chuen Hsueh, Shing Jong Lin, Chuan Chi Chiang, Chuan Hong Kao
المصدر: Circulation. Cardiovascular genetics. 2(5)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Taiwan, Muscle hypertrophy, Young Adult, Neonatal Screening, Asian People, Internal medicine, Genetics, Intronic Mutation, medicine, Missense mutation, Humans, Genetics (clinical), Aged, Newborn screening, business.industry, Incidence, Hypertrophic cardiomyopathy, Infant, Newborn, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Fabry disease, Pedigree, alpha-Galactosidase, Mutation (genetic algorithm), Mutation, Mutation testing, Fabry Disease, Female, Cardiology and Cardiovascular Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d7753f170355c8f2074fc158cb889c
https://pubmed.ncbi.nlm.nih.gov/20031620