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Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy
by Habarou, Florence (Author)
, Haack, Tobias (Author)
, Nitschke, Patrick (Author)
, Kölker, Stefan (Author)
, Korenke, Christoph (Author)
, Marquardt, Iris (Author)
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The American journal of human genetics, 101 (2017), 2, Seite 283-290
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Klinikum der Universität Heidelberg
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Zentrum für Kinder- und Jugendmedizin
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Habarou, Florence
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Korenke, Christoph
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encephalopathy
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hyperglycinemia
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lipoic acid
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metabolic flux
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pyruvate dehydrogenase
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