Sökning: "mitochondrial disorders"

Visar resultat 1 - 5 av 62 avhandlingar innehållade orden mitochondrial disorders.

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. Mitochondrial monoamine oxidase : studies on its activity in some psychiatric diseases

   Författare :Åsa Wiberg; Umeå universitet; []
   Nyckelord :Monoamine oxidase; psychiatric disease; suicides; alcohol abuse; schizophrenica; cycloid psychoses;

   Sammanfattning : Monoamine oxidase (E.C.I.4. LÄS MER

4. 3. 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

5. 4. 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

7. 5. Mitochondrial function in sepsis - Temporal evolvement of respiratory capacity in human blood cells

   Författare :Fredrik Sjövall; Lund Institutionen för kliniska vetenskaper; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; human; sepsis; severe sepsis; septic shock; platelets; mitochondria; OXPHOS; high-resolution respirometry; mitochondrial disorders; multiple organ failure; biogenesis; leukocytes; cytokines; respirometry; oxygen consumption; blood cells; temporal;

   Sammanfattning : Sepsis is a devastating disease that is caused by the host’s response to an overwhelming infectious process. As sepsis progresses, organs distant from the site of infection become affected and sepsis-induced multiple organ failure ensues. LÄS MER