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Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

AuthorsAndrea Mignarri, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico, Maria Teresa Dotti
JournalJournal of neurology (J Neurol) Vol. 261 Issue 3 Pg. 617-9 (Mar 2014) ISSN: 1432-1459 [Electronic] Germany
PMID24509641 (Publication Type: Case Reports, Letter)
Chemical References
  • Anticholesteremic Agents
  • Hydroxycholesterols
  • 27-hydroxycholesterol
  • Simvastatin
  • Steroid Hydroxylases
  • Cytochrome P450 Family 7
  • CYP7B1 protein, human
Topics
  • Adult
  • Anticholesteremic Agents (administration & dosage, pharmacology)
  • Cytochrome P450 Family 7
  • Female
  • Humans
  • Hydroxycholesterols (blood)
  • Male
  • Mutation (genetics)
  • Simvastatin (administration & dosage, pharmacology)
  • Spastic Paraplegia, Hereditary (blood, diagnosis, drug therapy, genetics)
  • Steroid Hydroxylases (genetics)
  • Treatment Outcome
  • Young Adult

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