Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation-Reference-Cited by-同舟云学术

Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation

Published:1997-11 Issue:5 Volume:131 Page:766-768
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Tyni Tiina,Rapola Juhani,Palotie Aarno,Pihko Helena

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria;Carpenter;Biochem Biophys Res Comm,1992

2. Novel fatty acid β-oxidation enzymes in rat liver mitochondria II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein;Uchida;J Biol Chem,1992

3. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype;IJlst;J Inherit Metab Dis,1995

4. Two α subunit donor splice site mutations cause human trifunctional protein deficiency;Brackett;J Clin Invest,1995

5. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits;Ushikubo;Am J Hum Genet,1996

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