Cristina Maftei

  • Citations Per Year
Learn More
Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC(More)
UNLABELLED Our study is focused on blood pressure before and after repair of aortic coarctation in childhood. METHODS A group of 26 children (13 boys, 13 girls, range 1-18 years, of which 12 operated: 9 boys and 3 girls) was studied, blood pressure being followed before and after operation. The recorded blood pressure was compared to normal values for age(More)
  • 1