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The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Patel, Kavi P., O'Brien, Thomas W., Subramony, Sankarasubramon H., Shuster, Jonathan, Stacpoole, Peter W.
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
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Journal Article
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The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
Patel, Kavi P., O'Brien, Thomas W., Subramony, Sankarasubramon H., Shuster, Jonathan, Stacpoole, Peter W.
Published in Molecular genetics and metabolism (01.01.2012)
Published in Molecular genetics and metabolism (01.01.2012)
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Journal Article
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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
DeBrosse, Suzanne D., Okajima, Kazuki, Zhang, Shulin, Nakouzi, Ghunwa, Schmotzer, Christine L., Lusk-Kopp, Marilyn, Frohnapfel, Mary Beth, Grahame, George, Kerr, Douglas S.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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Journal Article
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