Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Ozkinay, F.; Emecen, D.; Kose, M.; Isik, E.; Bozaci, A.; Canda, E.; Tuysuz, B.; Zubarioglu, TANYEL; Atik, T.; Onay, H.

doi:10.1016/j.ymgmr.2021.100732

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Ozkinay F., Emecen D. A., Kose M., Isik E., Bozaci A. E., Canda E., ...Daha Fazla

MOLECULAR GENETICS AND METABOLISM REPORTS, cilt.27, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 27
Basım Tarihi: 2021
Doi Numarası: 10.1016/j.ymgmr.2021.100732
Dergi Adı: MOLECULAR GENETICS AND METABOLISM REPORTS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
Anahtar Kelimeler: Sanflippo syndrome, NAGLU, Mucopolysaccaridosis, SANFILIPPO TYPE-B
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Aim: Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes the lysosomal enzyme alpha-N-acetylglucosaminidase. The major symptoms of the disease are cognitive and neurological defects. In this study, the molecular spectrums of 13 MPS IIIB patients were evaluated.