Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2017_68
Reference31 articles.
1. Alexander PM, Swager A, Lee KJ et al (2014) Paediatric heart transplantation in Australia comes of age: 21 years of experience in a national centre. Intern Med J 44(12a):1223–1231
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3. Boutron A, Acquaviva C, Vianey-Saban C et al (2011) Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab 103(4):341–348
4. Das AM, Fingerhut R, Wanders RJ et al (2000) Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. Eur J Pediatr 159(4):243–246
5. den Boer MEJ, Wanders JA, Morris AAM et al (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. J Pediatr 109:99–104
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