Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
| Image |  |
|---|---|
| Description | scientific article published on 6 February 2017 |
| Author/s |
author: Richard J Rodenburg Allison M Cotton Jukka S Moilanen Clara van Karnebeek Elisa Rahikkala |
| Publication date | February 6, 2017 |
| Language | |
| Country of origin | |
| Wikipedia link | |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |