Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia-Reference-Cited by-同舟云学术

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia

Published:2011 Issue: Volume: Page:79-85
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

Joost K.,Õunap K.,Žordania R.,Uudelepp M.-L.,Olsen R. K.,Kall K.,Kilk K.,Soomets U.,Kahre T.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2011_51

Reference22 articles.

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2. Carpenter K, Pollitt RJ, Middleton B (1992b) Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun 183(2):443–448

3. den Boer ME, Ijlst L, Wijburg FA, Oostheim W, van Werkhoven MA, van Pampus MG et al (2000) Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res 48(2):151–154

4. den Boer ME, Wanders RJ, Morris AA, Ijlst L, Heymans HS, Wijburg FA (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109(1):99–104

5. Duran M (2003) Disorders of mitochondrial fatty acid oxidation and ketone handling. In: Blau N, Duran M, Blaskovich ME, Gibson KM (eds) Physician’s guide to the laboratory diagnosis of metabolic diseases, 2nd edn. Springer, Berlin, pp 309–334

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