Author:
Nezu Jun-ichi,Tamai Ikumi,Oku Asuka,Ohashi Rikiya,Yabuuchi Hikaru,Hashimoto Noriyoshi,Nikaido Hiroko,Sai Yoshimichi,Koizumi Akio,Shoji Yutaka,Takada Goro,Matsuishi Toyojiro,Yoshino Makoto,Kato Hirohisa,Ohura Toshihiro,Tsujimoto Gozoh,Hayakawa Jun-ichiro,Shimane Miyuki,Tsuji Akira
Publisher
Springer Science and Business Media LLC
Reference21 articles.
1. Treem, W.R., Stanley, C.A., Finegold, D.N., Hale, D.E. & Coates, P.M. Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N. Engl. J. Med. 17, 1331–1336 (1988).
2. Karpati, G. et al. The syndrome of systemic carnitine deficiency: clinical, morphologic, biochemical, and pathophysiologic features. Neurology 25, 16–24 (1975).
3. Roe, C.R. & Coates, P.M. Mitochondrial fatty acid oxidation disorder. in The Metabolic and Molecular Bases of Inherited Diseases (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 1508– 1509 (McGraw-Hill, New York, 1995).
4. Rinaldo, P., Stanley, C.A., Hsu, B.Y.L., Sabchez, L.A. & Stern, H.J. Sudden neonatal death in carnitine transporter deficiency. J. Pediatr. 131, 304–305 (1997).
5. Tein, I. et al. Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr. Res. 28, 247–255 (1990).
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