Publications by authors named "Ellen Johanne Annexstad"

Paracetamol has a good safety profile, but pharmacogenetic differences in drug-metabolizing enzymes may have an impact on its risk of hepatotoxicity. We present a case of fatal acute liver failure (ALF) after therapeutic doses of paracetamol in a patient with Duchenne muscular dystrophy, where pharmacogenetic screening was conducted. This 30-year-old man was electively admitted for a tracheostomy.

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Background: As new gene-related treatment options for Duchenne muscular dystrophy (DMD) are being developed, precise information about the patients' genetic diagnosis and knowledge about the diversities of natural history in DMD is vital.

Objective: To obtain detailed insight into the genetic and clinical characteristics of paediatric DMD in Norway.

Methods: 94 boys with DMD, aged 0-18 years, were identified over a period of 3.

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