Trifunctional Protein Deficiency (TPD)
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1801-1
Reference7 articles.
1. Dagher R, Massie R, Gentil BJ (2021) MTP deficiency caused by HADHB mutations: pathophysiology and clinical manifestations. Mol Genet Metab 133:1–7. https://doi.org/10.1016/j.ymgme.2021.03.010
2. den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA (2003) Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr 142:684–689. https://doi.org/10.1067/mpd.2003.231
3. Knottnerus SJG et al (2018) Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 19:93–106. https://doi.org/10.1007/s11154-018-9448-1
4. Olpin SE et al. (2005) Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency J Inherit Metab Dis 28:533–544 https://doi.org/10.1007/s10545-005-0533-8
5. Rector RS, Payne RM, Ibdah JA (2008) Mitochondrial trifunctional protein defects: clinical implications and therapeutic approaches. Adv Drug Deliv Rev 60:1488–1496. https://doi.org/10.1016/j.addr.2008.04.014
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