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浏览/检索结果: 共5条，第1-5条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease 期刊论文 MOLECULAR MEDICINE REPORTS, 2019, 卷号: 19, 期号: 6, 页码: 4872-4880 作者:  Liu, Yi-Dan;  Chu, Xu;  Liu, Rui-Hua;  Sun, Ying;  Kong, Qing-Xia 收藏  |  浏览/下载：11/0  |  提交时间：2019/12/11 maple syrup urine disease  branched chain keto acid dehydrogenase E1  subunit beta gene  mutation  newborn  encephalopathy   An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene 期刊论文 STEM CELL RESEARCH, 2019, 卷号: 40 作者:  Li, Yue;  Zhang, Haiyan;  Yan, Beibei;  Ma, Yanyan;  Yang, Xiaomeng 收藏  |  浏览/下载：10/0  |  提交时间：2019/12/11 Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease 期刊论文 METABOLIC BRAIN DISEASE, 2018, 卷号: 33, 期号: 3, 页码: 741-751 作者:  Li, Xiaomei;  Yang, Yali;  Gao, Qing;  Gao, Min;  Lv, Yvqiang 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/11 Maple syrup urine disease  BCKDHA  BCKDHB  Mutation   Quantification of trimethylsilyl derivatives of amino acid disease biomarkers in neonatal blood samples by gas chromatography-mass spectrometry 期刊论文 ANALYTICAL AND BIOANALYTICAL CHEMISTRY, 2006, 卷号: 384, 期号: 4 作者:  Shen, XZ;  Deng, CH;  Wang, B;  Dong, L 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/27 bis-(trimethylsilyl)trifluoroacetamide  maple syrup urine disease  amino acids  derivatization  gas chromatography-mass spectrometry   Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry 期刊论文 JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, 2003, 卷号: 792, 期号: 2 作者:  Deng, CH;  Deng, YH 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/27 maple syrup urine disease  valine  lsoleucine  leucine  phenylalanine