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  • V. Ramaekers, N. Blau
  • Medicine
  • Developmental medicine and child neurology
  • 2004 (First Publication: 1 December 2004)
  • Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in theExpand
  • N. Blau, L. Bonafė, B. Thöny
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2001 (First Publication: 1 September 2001)
  • DOPA responsive dystonia (DRD) and sepiapterin reductase (SR) deficiency are inherited disorders of tetrahydrobiopterin (BH4) metabolism characterized by the signs and symptoms related to monoamineExpand