Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-1141-9
Reference23 articles.
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2. Acquaviva C, Benoist JF, Pereira S, et al (2005) Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mutα forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 25: 167–176. doi: 10.1002/humu.20128
3. Barron JT, Gu L, Parrillo JE (1998) Malate—aspartate shuttle, cytoplasmic NADH redox potential, and energetics in vascular smooth muscle. J Mol Cell Cardiol 30: 1571–1579. doi: 10.1006/jmcc.1998.0722
4. Boeckx RL, Hicks JM (1982) Methylmalonic acidemia with the unusual complication of severe hyperglycemia. Clin Chem 28: 1801–1803.
5. Bremer J, Davis EJ (1975) Studies on the active transfer of reducing equivalents into mitochondria via the malate—aspartate shuttle. Biochim Biophys Acta 376: 387–397. doi: 10.1016/0005-2728(75)90161-9
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