TAY-SACHS-DISEASE - A CASE-REPORT
Küçük Resim Yok
Tarih
1995
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish J Pediatrics
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Tay-Sachs disease (G(1/2) gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A. The case presented is of a twelve-month-old girl brought to the hospital because of mental-motor deterioration and convulsions. She was the child of first cousins and had a history of the deaths of two siblings with the same manifestations. Generalized hypotonia, macrocephaly, hyperacusis and a retinal cherry red spot appearance were present. There was no organomegaly. The diagnosis of Tay-Sachs disease was made by means of absence of serum hexosaminidase A activity.
Açıklama
Anahtar Kelimeler
TAY-SACHS, DISEASE, HEXOSAMINIDASE A
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
37
Sayı
1
