M A Willemsen
Affiliation: University Medical Centre
Country: The Netherlands
- Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndromeM A Willemsen
Department of Pediatric Neurology, University Hospital Nijmegen, Nijmegan, The Netherlands
Am J Ophthalmol 130:782-9. 2000..To emphasize the clinical importance of the ophthalmological features of the Sjögren-Larsson syndrome. To discuss the metabolic disturbances that might give rise to the ophthalmological picture...
- Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndromeM A Willemsen
Department of Pediatric Neurology, University Medical Center St Radboud, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
J Neurol Sci 183:61-7. 2001..Moreover, they open new pathophysiological considerations, with the prospect of rational treatment strategies...
- Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndromeM A Willemsen
Department of Paediatric Neurology, University Medical Centre, St Radboud, Nijmegen, The Netherlands
Brain 124:1426-37. 2001..The vast majority of SLS patients seem to be severely affected independent of their genotype...
- Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndromeM A Willemsen
Department of Paediatric Neurology, University Medical Centre St Radboud, Nijmegen, The Netherlands
Eur J Pediatr 160:711-7. 2001..Urinary concentrations of LTB4 and omega-OH-LTB4 decreased significantly (P=0.02 and P=0.003 respectively), while their concentrations in CSF were normal at baseline and remained so after therapy...
- Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectivelyJ Klepper
Department of Pediatrics and Pediatric Neurology, University of Essen, Essen, Germany
Neuropediatrics 36:302-8. 2005..A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism...