Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy


Oender E., Sinici I., Soenmez F. M. , Topcu M., ÖZKARA H. A.

NEUROLOGICAL RESEARCH, cilt.31, ss.60-66, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 31 Konu: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1179/016164108x323762
  • Dergi Adı: NEUROLOGICAL RESEARCH
  • Sayfa Sayıları: ss.60-66

Özet

Objective: Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B. Enzyme deficiency leads to the accumulation of sulfatide, which results in severe demyelination.