المؤلفون: Ruxuan He, Ruo Mo, Ming Shen, Lulu Kang, Jinqing Song, Yi Liu, Zhehui Chen, Hongwu Zhang, Hongxin Yao, Yupeng Liu, Yao Zhang, Hui Dong, Ying Jin, Mengqiu Li, Jiong Qin, Hong Zheng, Yongxing Chen, Dongxiao Li, Haiyan Wei, Xiyuan Li, Huifeng Zhang, Min Huang, Chunyan Zhang, Yuwu Jiang, Desheng Liang, Yaping Tian, Yanling Yang

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Cobalamin C deficiency (cblC), The MMACHC gene, C.609G > A, Methylmalonic acidemia and homocysteinemia, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01485-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/bab1b2af79f54981bd3de6a782a70744

المؤلفون: He, Ruxuan, Mo, Ruo, Shen, Ming, Kang, Lulu, Song, Jinqing, Liu, Yi, Chen, Zhehui, Zhang, Hongwu, Yao, Hongxin, Liu, Yupeng, Zhang, Yao, Dong, Hui, Jin, Ying, Li, Mengqiu, Qin, Jiong, Zheng, Hong, Chen, Yongxing, Li, Dongxiao, Wei, Haiyan, Li, Xiyuan, Zhang, Huifeng, Huang, Min, Zhang, Chunyan, Jiang, Yuwu, Liang, Desheng^Aff10, Tian, Yaping^Aff2, Yang, Yanling^Aff1

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Yi Liu, Mengqiu Li, Jinqing Song, Ying Jin, Hui Dong, Jiong Qin, Yuwu Jiang, Yaping Tian, Zhehui Chen, Yao Zhang, Xi-Yuan Li, Ming Shen, Chunyan Zhang, Yongxing Chen, Huifeng Zhang, Yanling Yang, Yupeng Liu, Haiyan Wei, Dongxiao Li, Lulu Kang, Hongwu Zhang, Hongxin Yao, Desheng Liang, Ruxuan He, Hong Zheng, Min Huang, Ruo Mo

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, China, medicine.medical_specialty, Anemia, Urinary system, C.609G > A, Methylmalonic acid, The MMACHC gene, lcsh:Medicine, Prenatal diagnosis, Gastroenterology, Cobalamin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Internal medicine, medicine, Humans, Pharmacology (medical), Cobalamin C deficiency (cblC), Child, Amino Acid Metabolism, Inborn Errors, Methylmalonic acidemia and homocysteinemia, Genetics (clinical), Newborn screening, business.industry, Research, lcsh:R, Infant, Newborn, Infant, Vitamin B 12 Deficiency, General Medicine, medicine.disease, MMACHC, Vitamin B 12, Phenotype, 030104 developmental biology, chemistry, Mutation, Female, Homocystinuria, CBLC, Oxidoreductases, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f76e1246235ff8d0503fa743b92317b
http://link.springer.com/article/10.1186/s13023-020-01485-7