Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency-Reference-Cited by-同舟云学术

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Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

Published:2015-03 Issue:1 Volume:94 Page:147-150
ISSN:0022-1333
Container-title:Journal of Genetics
language:en
Short-container-title:J Genet

Author:

HITOMI TOSHIAKI,MATSUURA NORIO,SHIGEMATSU YOSUKE,OKANO YOSHIYUKI,SHINOZAKI ERI,KAWAI MASAHIKO,KOBAYASHI HATASU,HARADA KOUJI H.,KOIZUMI AKIO

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://link.springer.com/content/pdf/10.1007/s12041-015-0486-0.pdf

Reference11 articles.

1. Chapoy P. R., Angelini C., Brown W. J., Stiff J. E., Shug A. L. and Cederbaum S. D. 1980 Systemic carnitine deficiency–a treatable inherited lipid-storage disease presenting as Reye’s syndrome. N. Engl. J. Med. 303, 1389–1394.

2. El-Hattab A. W., Li F. Y., Shen J., Powell B. R., Bawle E. V., Adams D. J. et al. 2010 Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet. Med. 12, 19–24.

3. Eriksson B. O., Lindstedt S. and Nordin I. 1988 Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. Eur. J. Pediatr. 147, 662–663.

4. Koizumi A., Nozaki J., Ohura T., Kayo T., Wada Y., et al. 1999 Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. Hum. Mol. Genet. 8, 2247–2254.

5. Lamhonwah A. M., Olpin S. E., Pollitt R. J., Vianey-Saban C., Divry P., Guffon N., et al. 2002 Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am. J. Med. Genet. 111, 271–284.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn screening for primary carnitine deficiency in Quanzhou, China;Clinica Chimica Acta;2021-01

2. Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening;Journal of Pediatric Endocrinology and Metabolism;2017-01-01

3. Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy;Journal of Pediatric Endocrinology and Metabolism;2015-01-01

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