Author:
Vitoria Isidro,Martín-Hernández Elena,Peña-Quintana Luis,Bueno María,Quijada-Fraile Pilar,Dalmau Jaime,Molina-Marrero Sofia,Pérez Belén,Merinero Begoña
Publisher
Springer Berlin Heidelberg
Reference48 articles.
1. Al Aqeel AI, Rashid MS, Ruiter JP, Ijlst L, Wanders RJ (2003) A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. Clin Genet 64:163–165
2. Al-Sannaa NA, Cheriyan GM (2010) Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. Saudi Med J 31:931–934
3. Baruteau J, Sachs P, Broue P et al (2013) Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data. J Inherit Metab Dis 37:137–139
4. Bonnefont JP, Bastin J, Behin A, Djouadi F (2009) Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med 360:838–840
5. Brivet M (2004) Carnitine-acylcarnitine translocase deficiency. Orphanet Encyclopedia 1–5
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