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

Oender, İNCİLAY; Sinici, Incilay; Soenmez, F.; TOPÇU, MERAL; Oezkara, HATİCE

doi:10.1179/016164108x323762

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, Scopus)

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.