Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012 Sep 18. 7(1):68. [QxMD MEDLINE Link].
Tamai I. Pharmacological and pathophysiological roles of carnitine/organic cation transporters (OCTNs: SLC22A4, SLC22A5 and Slc22a21). Biopharm Drug Dispos. 2012 Sep 5. [QxMD MEDLINE Link].
Koizumi A, Nozaki J, Ohura T, et al. 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. 1999 Nov. 8(12):2247-54. [QxMD MEDLINE Link].
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr. 90(4):441-5. [QxMD MEDLINE Link].
Wilcken B, Wiley V, Sim KG, Carpenter K. Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr. 2001 Apr. 138(4):581-4. [QxMD MEDLINE Link].
Rasmussen J, Dunø M, Lund AM, Steuerwald U, Hansen SH, Joensen HD, et al. Increased risk of sudden death in untreated Primary Carnitine Deficiency. J Inherit Metab Dis. 2019 Aug 1. [QxMD MEDLINE Link].
Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C. Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis. 2006 Oct. 29(5):627-30. [QxMD MEDLINE Link].
Wattanasirichaigoon D, Khowsathit P, Visudtibhan A, Suthutvoravut U, Charoenpipop D, Kim SZ. Pericardial effusion in primary systemic carnitine deficiency. J Inherit Metab Dis. 2006 Aug. 29(4):589. [QxMD MEDLINE Link].
Agnetti A, Bitton L, Tchana B, Raymond A, Carano N. Primary carnitine deficiency dilated cardiomyopathy: 28years follow-up. Int J Cardiol. 2012 Jun 2. [QxMD MEDLINE Link].
He L, Kim T, Long Q, Liu J, Wang P, Zhou Y, et al. Carnitine palmitoyltransferase-1b deficiency aggravates pressure overload-induced cardiac hypertrophy caused by lipotoxicity. Circulation. 2012 Oct 2. 126(14):1705-16. [QxMD MEDLINE Link]. [Full Text].
Lindner M, Hoffmann GF, Matern D. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis. 2010 Apr 7. [QxMD MEDLINE Link].
Amat di San Filippo C, Taylor MR, Mestroni L, Botto LD, Longo N. Cardiomyopathy and carnitine deficiency. Mol Genet Metab. 2008 Jun. 94(2):162-6. [QxMD MEDLINE Link]. [Full Text].
[Guideline] Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006 Sep. 13(9):923-9. [QxMD MEDLINE Link].
Angelini C, Semplicini C. Metabolic myopathies: the challenge of new treatments. Curr Opin Pharmacol. 2010 Mar 29. [QxMD MEDLINE Link].
Angelini C, Vergani L, Martinuzzi A. Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation. Crit Rev Clin Lab Sci. 1992. 29(3-4):217-42. [QxMD MEDLINE Link].
Bok LA, Vreken P, Wijburg FA, et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics. 2003 Nov. 112(5):1152-5. [QxMD MEDLINE Link].
Bonner CM, DeBrie KL, Hug G, Landrigan E, Taylor BJ. Effects of parenteral L-carnitine supplementation on fat metabolism and nutrition in premature neonates. J Pediatr. 1995 Feb. 126(2):287-92. [QxMD MEDLINE Link].
Borum PR. Carnitine in neonatal nutrition. J Child Neurol. 1995 Nov. 10 Suppl 2:S25-31. [QxMD MEDLINE Link].
De Vivo D, Tein I. Primary and secondary disorders of carnitine metabolism. International Pediatrics. 1990. 5:134-41.
Lamhonwah AM, Olpin SE, Pollitt RJ, et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002 Aug 15. 111(3):271-84. [QxMD MEDLINE Link].
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15. 142C(2):77-85. [QxMD MEDLINE Link].
Pons R, De Vivo DC. Primary and secondary carnitine deficiency syndromes. J Child Neurol. 1995 Nov. 10 Suppl 2:S8-24. [QxMD MEDLINE Link].
Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Curr Opin Pediatr. 1998 Dec. 10(6):615-21. [QxMD MEDLINE Link].
Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ. Sudden neonatal death in carnitine transporter deficiency. J Pediatr. 1997 Aug. 131(2):304-5. [QxMD MEDLINE Link].
Roe C, Coates P. Mitochondrial fatty acid oxidation disorders. Scriver CR, et al, eds. The Metabolic and Molecular Basic of Inherited Disease. 7th ed. New York, NY: McGraw-Hill, Health Professions Division;.; 1995. 1501-1533.
Saudubray JM, Martin D, de Lonlay P, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis. 1999 Jun. 22(4):488-502. [QxMD MEDLINE Link].
Scaglia F, Longo N. Primary and secondary alterations of neonatal carnitine metabolism. Semin Perinatol. 1999 Apr. 23(2):152-61. [QxMD MEDLINE Link].
Scaglia F, Wang Y, Longo N. Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys. 1999 Apr 1. 364(1):99-106. [QxMD MEDLINE Link].
Stanley CA. Carnitine deficiency disorders in children. Ann NY Acad Sci. 2004. 1003:42-51.
Dorum S, Güney Varal I, Gorukmez O, Dogan P, Ekici A. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency. J Pediatr Endocrinol Metab. 2019 Jul 26. 32 (7):781-783. [QxMD MEDLINE Link].
Clark MA, Stein REK, Silver EJ, Khalid S, Fuloria M, Esteban-Cruciani NV. Carnitine deficiency in preterm infants: A national survey of knowledge and practices. J Neonatal Perinatal Med. 2017. 10 (4):381-386. [QxMD MEDLINE Link].