Search for dissertations about: "Alpers syndrome"
Found 4 swedish dissertations containing the words Alpers syndrome.
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1. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies
Abstract : Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. READ MORE
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2. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity
Abstract : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. READ MORE
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3. Mitochondrial disease in children : from clinical presentation to genetic background
Abstract : Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain. READ MORE
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4. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy
Abstract : Neuromuscular disorders can be subdivided into anterior horn cell disorders, neuropathies, myasthenic disorders and myopathies. Some multisystem disorders, such as myotonic dystrophy and mitochondrial encephalomyopathies, are traditionally also included. READ MORE