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1 Ergebnisse
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Expanding the genetic and phenotypic spectrum of branched‐c..:
Knerr, Ina
;
Colombo, Roberto
;
Urquhart, Jill
...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 809-817 , 2019
Link:
https://doi.org/10.1002/jimd.12135
RT Journal T1 <Title>Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_jimd.12135&Exemplar=1&LAN=DE A1 Knerr, Ina A1 Colombo, Roberto A1 Urquhart, Jill A1 Morais, Ana A1 Merinero, Begona A1 Oyarzabal, Alfonso A1 Pérez, Belén A1 Jones, Simon A. A1 Perveen, Rahat A1 Preece, Mary A. A1 Rogers, Yvonne A1 Treacy, Eileen P. A1 Mayne, Philip A1 Zampino, Giuseppe A1 MacKinnon, Sabrina A1 Wassmer, Evangeline A1 Yue, Wyatt W. A1 Robinson, Ian A1 Rodríguez‐Pombo, Pilar A1 Olpin, Simon E. A1 Banka, Siddharth PB Wiley YR 2019 SN 0141-8955 SN 1573-2665 JF Journal of Inherited Metabolic Disease VO 42 IS 5 SP 809 OP 817 LK http://dx.doi.org/https://doi.org/10.1002/jimd.12135 DO https://doi.org/10.1002/jimd.12135 SF ELIB - SuUB Bremen
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