3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations

The human HADH gene encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, the enzyme which catalyzes the third step of the β-oxidation of the fatty acids in the mitochondrial matrix. Loss-of-function mutations in the HADH gene lead to short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency, an...

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Bibliografiset tiedot
Päätekijät: Popa, Florina Ion, Perlini, Silvia, Teofoli, Francesca, Degani, Daniela, Funghini, Silvia, La Marca, Giancarlo, Rinaldo, Piero, Vincenzi, Monica, Antoniazzi, Franco, Boner, Attilio, Camilot, Marta
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2011
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509842/
https://ncbi.nlm.nih.gov/pubmed/23430856
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_50
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