No abstract is available for this paper.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Päivi M Vieira,J. Cameron,E. Rahikkala,Riikka Keski‐Filppula,Linhua Zhang,S. Santra,A. Matthews,P. Myllynen,M. Nuutinen,J. Moilanen,R. Rodenburg,A. Rolfs,J. Uusimaa,C. V. van Karnebeek
Published 2017 in Molecular Genetics and Metabolism
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PUBLICATION RECORD
- Publication year
2017
- Venue
Molecular Genetics and Metabolism
- Publication date
2017-04-01
- Fields of study
Biology, Medicine
- Identifiers
- External record
- Source metadata
Semantic Scholar, PubMed
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