Á lódáil...
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analy...
Na minha lista:
| Foilsithe in: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Springer Berlin Heidelberg
2016
|
| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5585109/ https://ncbi.nlm.nih.gov/pubmed/27900673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_21 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|