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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Biochemistry, Genetics and Molecular Biology