Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency

Ina Knerr, Roberto Colombo, Jill Urquhart, Ana Morais, Begona Merinero, Alfonso Oyarzabal, Belén Pérez, Simon A Jones, Rahat Perveen, Mary A Preece, Yvonne Rogers, Eileen P Treacy, Philip Mayne, Giuseppe Zampino, Sabrina MacKinnon, Evangeline Wassmer, Wyatt W Yue, Ian Robinson, Pilar Rodríguez-Pombo, Simon E OlpinSiddharth Banka

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Medicine & Life Sciences