Sökning: "Marcus Ewert Broman"

Hittade 1 avhandling innehållade orden Marcus Ewert Broman.

1. 1. Anaesthesia and Genetics of the Ryanodine 1 Receptor

   Författare :Marcus Ewert Broman; Lund Institutionen för kliniska vetenskaper; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; General Anaesthesia; Ryanodine 1 Receptor; Malignant Hyperthermia; Genetics;

   Sammanfattning : The only validated method to characterize the phenotype and to reach a definitive diagnosis of Malignant Hyperthermia Susceptibility (MHS; OMIM *145600), a pharmacogenetic disease linked to the Ryanodine 1 receptor gene (RYR1; OMIM *180901), is an invasive muscle contraction test requiring a muscle biopsy, according to the European (IVCT) protocol or to the North American (CHCT) protocol. The series of scientific papers in this thesis tries to reach as far as possible in diagnosing MHS from peripheral venous blood samples collected at the patients’ local primary care provider and sent to the laboratory over significant transportation time and distance. LÄS MER