Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"metabolic decompensation"”.
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The Contextual Roles of Isocitrate Dehydrogenase-1 and Isocitrate Dehydrogenase-2 in Electron Transport Chain Complex III Deficiency
… presented at age 3 with recurrent episodes of metabolic decompensation involving hypoglycemia and hyperlactatemia, but for whom conventional testing could not identify the underlying molecular defect. Whole exome sequencing identified compound heterozygosity for novel, putatively pathogenic …
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Generation of a Medaka Fish Model of Propionic Acidemia for Development of Novel Therapies.
… acute, recurrent and life-threatening crises of metabolic decompensation starting from the newborn period. Patients also suffer from multi-organ complications, neurological dysfunction, and cardiomyopathy. Despite available treatments, disease mortality and morbidity remain elevated and …
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Isovalerianazidämie : Klinik, Pathobiochemie und Therapie am Beispiel von 28 Patienten
Die Isovalerianazidämie ist eine Stoffwechselstörung im Abbau der verzweigtkettigen Aminosäure Leucin, der ein Defekt des Enzyms Isovaleryl-CoA-Dehydrogenase zugrunde liegt. In der vorliegenden Arbeit wurden 28 Patienten (15 männlich, 13 weiblich) mit Isovalerianazidämie bezüglich der Diagnostik, …