Carnitine Deficiency: Primary and secondary syndromes. In: Carnitine Today, De Simone C and Famularo G (eds), Landes Bioscience, Springer, PP 119-161.Famularo G, Matricardi F, Nucera E, Santini G and De Simone C: Carnitine deficiency: Primary and secondary syndromes. In: ...
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal val...
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She was initially considered to have a beta oxygenation defect or secondary carnitine deficiency caused by pivalic acid-containing antibiotics; however, repetitive carnitine analysis and free carnitine clearance measurement confirmed primary carnitine deficiency (carnitine transporter deficiency). Children with ...
Carnitine uptake defect; CUD; Carnitine deficiency (systemic); Carnitine transporter defect; OCTN2 transporter deficiency Definition and Characteristics Primary carnitine deficiency (OMIM 212140) is an autosomal recessive disorder of fatty acid oxidation due to the lack of functional OCTN2 carnitine transpor...
Article: Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts
Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2, which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscular weakness and dilated cardiomyopathy. Two OCTN2-defective huma...
L-Carnitine transport was studied in cultured muscle cells and skin fibroblasts of patients with primary systemic carnitine deficiency and control subjects. In both cell culture types, two systems for carnitine transport were identified. The kinetic parameters for carnitine transport were remarkably similar...
The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS). Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven ...
费用:99美元 投递稿件 查看量下载量 121 相关文章 更多... -2017 10例原发性肉碱缺乏症新生儿的基因诊断 Genetic diagnosis of 10 neonates with primary carnitine deficiency DOI:10.7499/j.issn.1008-8830.2017.11.005 谭建强,陈大宇,李哲涛,严提珍,黄际卫,蔡稔 ...