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 “"Inherited metabolic disorder"”.
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Novel Diagnostic Approaches for Genetic and Environmental Sources of Mitochondrial Dysfunction
… that can prevent or reverse the deterioration of metabolic dysfunctions is critical to establishing early intervention. My research focused on investigating molecular targets linked with Friedrich's Ataxia, an inherited metabolic disorder, through conducting functional in-vitro studies using …
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Factors affecting metabolism and metabolic control in phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disorder treated by a phenylalanine restricted diet in order to avoid neurocognitive impairment. Blood phenylalanine is the main outcome marker which is modulated by many dietary factors. Traditionally, L-amino acid-based protein substitutes are the …
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Development of A Gene Therapy for Creatine Transporter Deficiency
… deficiency syndromes are a group of genetic disorders caused by the inability to synthesize or transport creatine, leading to a severe depletion of creatine in the brain. Creatine transporter deficiency is one of the three Cerebral creatine deficiency syndromes caused by loss of function …