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Glutaric acidemia type 1.
Hedlund GL, Longo N, Pasquali M. Hedlund GL, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602100 Free PMC article. Review.
Disorders of carnitine transport and the carnitine cycle.
Longo N, Amat di San Filippo C, Pasquali M. Longo N, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. doi: 10.1002/ajmg.c.30087. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602102 Free PMC article. Review.
Genotype-phenotype correlation in primary carnitine deficiency.
Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Rose EC, et al. Hum Mutat. 2012 Jan;33(1):118-23. doi: 10.1002/humu.21607. Epub 2011 Oct 11. Hum Mutat. 2012. PMID: 21922592 Free PMC article.