Sökning: "Charlotte Bieneck Haglind"

Hittade 1 avhandling innehållade orden Charlotte Bieneck Haglind.

1. 1. Energy metabolism and clinical symptoms in beta-oxidation defects, especially long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency

   Författare :Charlotte Bieneck Haglind; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a severe inborn error in the beta-oxidation of long-chain fatty acids. The disease presents during the first years of life. Hypoglycemia, hepatic manifestations, muscle hypotonia and episodes of rhabdomyolysis, cardiomyopathy and even sudden death are common symptoms. LÄS MER