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科研机构
山东大学 [3]
复旦大学上海医学院 [2]
长春应用化学研究所 [1]
内容类型
期刊论文 [6]
发表日期
2019 [2]
2018 [1]
2012 [1]
2006 [1]
2003 [1]
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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
A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening
期刊论文
amino acids, 2012, 卷号: 42, 期号: 5, 页码: 1889-1895
Wang CY
;
Zhang WY
;
Song FR
;
Liu ZQ
;
Liu SY
收藏
  |  
浏览/下载:17/0
  |  
提交时间:2013/05/22
TANDEM MASS-SPECTROMETRY
LIQUID-CHROMATOGRAPHIC ANALYSIS
SYRUP-URINE-DISEASE
DRIED-BLOOD
INHERITED DISORDERS
PHYSIOLOGICAL SAMPLES
BIOLOGICAL INTEREST
RAPID DIAGNOSIS
INBORN-ERRORS
BODY-FLUIDS
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
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