Hyperammonemic Encephalopathy Caused by Carnitine Deficiency
Author:
Publisher
Springer Science and Business Media LLC
Subject
Internal Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11606-007-0473-0.pdf
Reference36 articles.
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2. Pons R, Carrozzo R, Tein I, et al. Deficient muscle carnitine transport in primary carnitine deficiency. Pediatr Res. 1997;42:583–7.
3. Glasgow AM, Engel AG, Bier DM, et al. Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res. 1983;17:319–26.
4. Di Donato S, Pelucchetti D, Rimoldi M, et al. Systemic carnitine deficiency: clinical, biochemical, and morphological cure with L-carnitine. Neurology. 1984;34:157–62.
5. Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr. 2001;138:581–4.
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