Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Background: Carnitine-acylcarnitine translocase (CACT) deficiency is a rare autosomal recessive disease in the mitochondrial transport of long-chain fatty acids. Despite early diagnosis and treatment, the disease still has a high mortality rate. Methods: Clinical symptoms, long-term follow-up, and b...

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Vydáno v:JIMD Rep
Hlavní autoři: Vitoria, Isidro, Martín-Hernández, Elena, Peña-Quintana, Luis, Bueno, María, Quijada-Fraile, Pilar, Dalmau, Jaime, Molina-Marrero, Sofia, Pérez, Belén, Merinero, Begoña
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375124/
https://ncbi.nlm.nih.gov/pubmed/25614308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_382
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