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

Oender E., Sinici I., Soenmez F. M., TOPÇU M., Oezkara H. A.

NEUROLOGICAL RESEARCH, cilt.31, sa.1, ss.60-66, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1179/016164108x323762
  • Dergi Adı: NEUROLOGICAL RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.60-66
  • Hacettepe Üniversitesi Adresli: Evet

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.