Brain MRI findings in two Turkish pediatric patients with aspartylglucosaminuria
Küçük Resim Yok
Tarih
2016
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SAGE PUBLICATIONS INC
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Aspartylglucosaminuria is a rare lysosomal storage disorder that occurs as a result of a deficiency of the aspartylglucosaminidase enzyme. Because the disease is commonly referred to as the Finnish disease heritage, it is underdiagnosed outside of Finland. To date, only three Turkish patients are described in the literature. Here we describe the clinical and brain magnetic resonance imaging findings in two Turkish cousins with aspartylglucosaminuria, which can raise the suspicion of this rare disease in clinical practice.
Açıklama
Anahtar Kelimeler
Aspartylglucosaminuria, lysosomal storage disorder, brain MRI
Kaynak
NEURORADIOLOGY JOURNAL
WoS Q Değeri
N/A
Scopus Q Değeri
Q3
Cilt
29
Sayı
5
