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3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity

BACKGROUND: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the β-oxidation of fatty acids. All previously reported patients with mutations in HADH gene and hyperinsulinemic hypoglycemia (HH) showed raised plasma hydroxybutyrylcarni...

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Bibliografske podrobnosti
izdano v:J Clin Endocrinol Metab
Main Authors: Kapoor, Ritika R., James, Chela, Flanagan, Sarah E., Ellard, Sian, Eaton, Simon, Hussain, Khalid
Format: Artigo
Jezik:Inglês
Izdano: 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7611919/
https://ncbi.nlm.nih.gov/pubmed/19417036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0423
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