( 1999 ) Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter . Nat. Genet. 21 , 91 – 94 .Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, et al. (1999) ...
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...
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...
Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progr... AM Lamhonwah,SE Olpin,RJ Pollitt,... ...
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1.原发性(Primary Deficiency) 患者因肌肉内L-Carnitine含量低,使得脂肪堆积,肌肉因此呈现无力甚至萎缩的现象;全身性患 … www.qzqza.com|基于14个网页 2. 原发性缺乏 1.原发性缺乏(Primary Deficiency)可分为肌病性(myopathic)和全身性(systemic)两种。肌病性患者因肌肉内L-Carnitine含量低, … ...
We present a rare case in which rotavirus gastroenteritis led to sequential diagnosis of acute hepatitis and systemic primary carnitine deficiency (CDSP) in a 1-year-old girl. The patient's symptoms (hypoglycemia, hepatomegaly, and elevated levels of serum transaminases and creatinine kinase) ...
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. W., Li F. Y., Shen J., et al.: Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular ... AW El-Hattab,FY Li...
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. Eur J Med Genet 2014;57:571–5.10.1016/j.ejmg.2014.08.001Search in Google Scholar PubMed 10. Ma Pingyue. Analysis the gene types and clinical feature of 50 Newborns with Primary Carnitine Deficiency....
1990: Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy Pediatric Research 28(3): 247-255 Horiuchi, M.; Kobayashi, K.; Yamaguchi, S.; Shimizu, N.; Koizumi, T.; Nikaido, H.; Hayakawa, J.; Kuwajima, M...