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3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

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author: Mariusz Oltarzewski  Rosalba Carrozzo  Joanna Trubicka  Chin Seng Gan  Magdalena Pajdowska  Meow-Keong Thong  Małgorzata Krajewska-Walasek  Dariusz Rokicki  Carlo Dionisi-Vici  Maciej Pronicki  Elżbieta Ciara  Ewa Pronicka  Dorota Piekutowska-Abramczuk 

Publication date May 17, 2017
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