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Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The “Primary 3-methylglutaconic aciduria,” 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabolism. For all other subtypes, also denoted “Secondary...
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| Pubblicato in: | JIMD Rep |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4221300/ https://ncbi.nlm.nih.gov/pubmed/24757000 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_309 |
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