Sökning: "Alpers syndrome"

Hittade 4 avhandlingar innehållade orden Alpers syndrome.

  1. 1. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies

    Författare :Kalliopi Sofou; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mitochondrial diseases; mitochondrial encephalopathy; Alpers syndrome; Leigh syndrome; neuroimaging; whole exome sequencing;

    Sammanfattning : 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. LÄS MER

  3. 2. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    Sammanfattning : 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. LÄS MER

  4. 3. Mitochondrial disease in children : from clinical presentation to genetic background

    Författare :Karin Naess; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  5. 4. Neuromuscular disorders in childhood. Epidemiology and characterization of a new myopathy

    Författare :Niklas Darin; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neuromuscular disorders; epidemiology; mitochondrial encephalomyopathy; hereditary inclusion-body myopathy; myosin heavy-chain IIa; childhood;

    Sammanfattning : 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. LÄS MER