3-Methylglutaconic aciduria in carriers of primary carnitine deficiencyCatherine A. Ziats aWilliam B. Burns aMatt L. Tedder aLaura Pollard aTim Wood a bNeena L. Champaigne a c
Newborn screeningPrimary carnitine deficiencySLC22A5Background and aims Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by functional defects in the carnitine transporter OCTN2 due to mutations in SLC22A5. Here, we aimed to understand the incidence, clinical, biochemical, ...
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...
The prevalence of primary carnitine deficiency (PCD) in the Faroe Islands is the highest reported in the world (1:300). Serious symptoms related to PCD, e.g. sudden death, have previously only been associated to the c.95A > G/c.95A > G genotype in the Faroe Islands. We report and...
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TAN Jian-Qiang,CHEN Da-Yu,LI Zhe-Tao,YAN Ti-Zhen,HUANG Ji-Wei,CAI Ren Keywords:原发性肉碱缺乏症,串联质谱,SLC22A5基因,基因突变,新生儿, Primary carnitine deficiency,Tandem mass spectrometry,SLC22A5 gene,Gene mutation,Neonate Full-TextCite this paperAdd to My Lib ...
Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with...
“Systemic primary carnitine deficiency” is a genetic defect and an autosomal recessive disorder that leads to several metabolic aberrations. From: Life Sciences, 2018 About this pageSet alert Also in subject area: Biochemistry, Genetics and Molecular BiologyDiscover other topics On this page ...
Prussian blue staining (specific for iron) validated the presence of SHP30 in the carrier cell cytoplasm [172]. 5.3. Cell based therapy and nucleic acid delivery Since IONPs can be imaged, monitored and quantified by methods including TEM, wet chemical iron assays, inductively coupled plasma (...
Primary carnitine deficiency (PCD) causes low levels of carnitine in patients potentially leading to metabolic and cardiac symptoms. Newborn screening for PCD is now routine in many countries by measuring carnitine levels in infants. In this study we report Apgar scores, length and weight in ...