Carnitine Palmitoyltransferase Deficiency
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1329-1
Reference29 articles.
1. Avila-Smirnow D et al (2018) Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a native South American family with whole-body muscle magnetic resonance imaging findings: two case reports. J Med Case Rep 12:249. https://doi.org/10.1186/s13256-018-1702-3
2. Baker JJ, Burton BK (2021) Diagnosis and clinical management of long-chain fatty-acid oxidation disorders: a review touch. Rev Endocrinol 17:108–111. https://doi.org/10.17925/EE.2021.17.2.108
3. Bank WJ, DiMauro S, Bonilla E, Capuzzi DM, Rowland LP (1975) A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. N Engl J Med 292:443–449. https://doi.org/10.1056/NEJM197502272920902
4. Bennett M, Santani A (2005) Carnitine palmitoyltransferase 1A deficiency. In: Adam M, Everman D, Mirzaa G (eds) GeneReviews® [Internet], vol 2023. University of Washington, Seattle, pp 1993–2023
5. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J (2004) Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Asp Med 25:495–520. https://doi.org/10.1016/j.mam.2004.06.004
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