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 4 of 4 for “"inborn error of metabolism"”.
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Consequences and Prevention of Elevated Circulating Tyrosine during Nitisinone Therapy in Alkaptonuria.
… is an ultra-rare, autosomal recessive disorder of tyrosine catabolism due to mutations within the homogentisate 1,2-dioxygenase (HGD) gene. The resulting enzyme deficiency leads to accumulation of homogentisic acid (HGA) and deposition of melanin-like pigment polymers in the connective tissues …
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Generation of a Medaka Fish Model of Propionic Acidemia for Development of Novel Therapies.
Propionic acidemia (PA) is an autosomal recessive inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). The disease presents with acute, recurrent and life-threatening crises of metabolic decompensation starting from the newborn period. …
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Structural investigations of adenosylcobalamin-dependent enzyme maturation
Metalloenzymes utilize metallocofactors, ranging from single metal ions to complicated metallic clusters, to catalyze a wide range of challenging chemical reactions that are critical for life. Incorporation of these metallocofactors often relies on proteins known as metallochaperones that …
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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, …