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Patients present with a dark blue hyperpigmented patch, usually with a unilateral distribution along the trigeminal nerve (V1 and V2 branches)

Nat Rev Mol Cell Biol 2014

Prvost, C

Hepatology 52, 411420.10.1016/S0168-8278(10)61065-3 125 MoriyaK.NakagawaK.SantaT.ShintaniY.FujieH.MiyoshiH.TsutsumiT.MiyazawaT.IshibashiK.HorieT.ImaiK.TodorokiT.KimuraS.KoikeK

Alterations in the normal activities of SM-cycle enzymes have been linked to many central nervous system-related pathologies such as Alzheimers, Parkinsons, ischemia/hypoxia, depression, schizophrenia or Niemann-Pick diseases 19 .Specific SL functions have often been characterized in cells with decreased amounts of SL, using either SL-degrading enzymes (e.g