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Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 (BCAT2) deficiency
I Knerr, R Colombo, J Urquhart, A Morais, B Merinero, A Oyarzabal, B Pérez, R Perveen, M A Preece, Y Rogers, E P Treacy, P Mayne, G Zampino, S MacKinnon, E Wassmer, W W Yue, I Robinson, P Rodríguez-Pombo, S E Olpin, S Banka
- Temple Street Children's University Hospital
- Centro de Biología Molecular Severo Ochoa (CSIC-UAM)
- Mater Misericordiae University Hospital
- Policlinico Universitario Agostino Gemelli
- Nuffield Department of Medicine
- Birmingham Women's and Children's NHS Foundation Trust
- Sheffield Children's NHS Foundation Trust
- Catholic University of the Sacred Heart (UCSC)
- Universidad Autonoma de Madrid
- Biomedical Network on Rare Diseases (CIBERER)
- Niguarda Ca' Granda Metropolitan Hospital Milan
Research output: Contribution to journal › Article › peer-review