Lataa...
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...
Tallennettuna:
| Julkaisussa: | JIMD Rep |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Springer Berlin Heidelberg
2014
|
| Aiheet: | |
| Linkit: | 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 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|